# SLC2A1 variant information please help!

**URL:** https://discuss.gnomad.broadinstitute.org/t/slc2a1-variant-information-please-help/794
**Category:** General
**Created:** [February 4, 2026, 7:20pm UTC](https://discuss.gnomad.broadinstitute.org/t/slc2a1-variant-information-please-help/794 "2026-02-04T19:20:27Z")
**Posts on this page:** 2
**Page:** 1

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### Author: ![mayast](https://avatars.discourse-cdn.com/v4/letter/m/c4cdca/32.png) [@mayast](https://discuss.gnomad.broadinstitute.org/u/mayast)
#### Post date: [February 4, 2026, 7:20pm UTC](https://discuss.gnomad.broadinstitute.org/t/slc2a1-variant-information-please-help/794/1 "2026-02-04T19:20:28Z")

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**SLC2A1:c.1373G\>A /rs752143706**

**SNV:1-42927147-C-T(GRCh38)**

This variant was identified in a prenatal case and is classified as pathogenic.

The variant is reported in 8 alleles in gnomAd v.4.1

I am looking for any information critical for risk assessment and counseling of the parents .It is quite urgent because the pregnancy is 33 week already. no abnormal findings on ultrasound.

Specifically, I would greatly appreciate the following information:

- are the reports derived from a biobank or from a specific cohort of patients?

- Any evidence of penetrance?

- was it inherited or de novo?

- was the quality of the variant calls good enough?

This information is essential for estimating the **risk of severe disease** in the fetus and for guiding parental decision-making. The pregnancy is already at an advanced gestational age, so time is an important factor.

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### Author: ![kchao](https://sea2.discourse-cdn.com/flex016/user_avatar/discuss.gnomad.broadinstitute.org/kchao/32/6_2.png) [@kchao](https://discuss.gnomad.broadinstitute.org/u/kchao)
#### Post date: [February 6, 2026, 7:39pm UTC](https://discuss.gnomad.broadinstitute.org/t/slc2a1-variant-information-please-help/794/2 "2026-02-06T19:39:00Z")

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For this particular [variant](https://gnomad.broadinstitute.org/variant/1-42927147-C-T?dataset=gnomad_r4), you can infer that three of the eight alleles were present in samples from the UK Biobank by toggling between the full gnomAD v4.1 dataset and the non-UK Biobank subset of gnomAD v4.1.

 ![image](https://us1.discourse-cdn.com/flex016/uploads/broadinstitute1/original/1X/fb2e5906b86082879378383f31887eb824b71744.png)  
 ![image](https://us1.discourse-cdn.com/flex016/uploads/broadinstitute1/original/1X/26f0b803c75f0ce33694b1b8767e6b221470848f.png)

We are unable to share the cohort of origin for the other five alleles (see previous response [here](https://discuss.gnomad.broadinstitute.org/t/prkce-variant-2-46001442-g-a-grch38/769/2)).

The quality metrics of this variant call can be found at the bottom of the variant page:

 ![image](https://us1.discourse-cdn.com/flex016/uploads/broadinstitute1/original/1X/945ccada273399d088ad4882f6a49bdba4d69f7f.png)  
The variant carriers appear to have high genotype quality and adequate depth for their genotype calls. The allele balance for their calls also falls within the expectations for a true heterozygous call. The available read data also suggest that these are high quality variant calls.