rs3800131

Variant names:

• chr6-1918028-A-C
• rs3800131
• NM_001500.4:c.771+12075T>G

Your query was ambiguous. Multiple possible variants found:

• chr6-1918028-A-C
• chr6-1918028-A-G
• chr6-1918028-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001500.4(GMDS):​c.771+12075T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.62 in 152,126 control chromosomes in the GnomAD database, including 29,544 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.62 (29544 hom., cov: 33)
• Consequence: GMDS NM_001500.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.201
• Publications: 6 publications found

Genes affected

GMDS (HGNC:4369): (GDP-mannose 4,6-dehydratase) GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.809 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
GMDS	NM_001500.4	c.771+12075T>G		intron_variant	Intron 7 of 10	ENST00000380815.5	NP_001491.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
GMDS	ENST00000380815.5	c.771+12075T>G		intron_variant	Intron 7 of 10	1	NM_001500.4	ENSP00000370194.4
GMDS	ENST00000530927.5	c.681+12075T>G		intron_variant	Intron 7 of 10	1		ENSP00000436726.1
GMDS	ENST00000380805.6	n.897+12075T>G		intron_variant	Intron 1 of 5	2
GMDS	ENST00000531690.5	n.250+12075T>G		intron_variant	Intron 3 of 5	5

Frequencies

GnomAD3 genomes AF: 0.620 AC: 94208 AN: 152008 Hom.: 29507 Cov.: 33

Gnomad AFR AF: 0.533

Gnomad AMI AF: 0.573

Gnomad AMR AF: 0.661

Gnomad ASJ AF: 0.548

Gnomad EAS AF: 0.830

Gnomad SAS AF: 0.719

Gnomad FIN AF: 0.650

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.641

Gnomad OTH AF: 0.604

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.620 AC: 94301 AN: 152126 Hom.: 29544 Cov.: 33 AF XY: 0.625 AC XY: 46467 AN XY: 74334

African (AFR) AF: 0.533 AC: 22100 AN: 41464

American (AMR) AF: 0.661 AC: 10102 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.548 AC: 1904 AN: 3472

East Asian (EAS) AF: 0.830 AC: 4297 AN: 5176

South Asian (SAS) AF: 0.719 AC: 3460 AN: 4812

European-Finnish (FIN) AF: 0.650 AC: 6880 AN: 10584

Middle Eastern (MID) AF: 0.595 AC: 175 AN: 294

European-Non Finnish (NFE) AF: 0.641 AC: 43577 AN: 68010

Other (OTH) AF: 0.608 AC: 1285 AN: 2114

Alfa AF: 0.632 Hom.: 80735

Bravo AF: 0.611

Asia WGS AF: 0.748 AC: 2602 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.9
DANN	Benign	0.75
PhyloP100		-0.20
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs3800131; hg19: chr6-1918262;