rs6937795

Variant names:

• chr6-136970143-A-C
• rs6937795
• ENST00000749093.1:n.319-220A>C

Your query was ambiguous. Multiple possible variants found:

• chr6-136970143-A-C
• chr6-136970143-A-G
• chr6-136970143-A-T

Variant summary

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

The ENST00000749093.1(ENSG00000297587):​n.319-220A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.436 in 151,830 control chromosomes in the GnomAD database, including 14,846 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 0.44 (14846 hom., cov: 30)
• Consequence: ENSG00000297587 ENST00000749093.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.240
• Publications: 18 publications found

Genes affected

ENSG00000297587 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.474 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000297587	ENST00000749093.1	n.319-220A>C		intron_variant	Intron 1 of 1
ENSG00000297587	ENST00000749094.1	n.388-220A>C		intron_variant	Intron 2 of 2

Frequencies

GnomAD3 genomes AF: 0.436 AC: 66120 AN: 151714 Hom.: 14840 Cov.: 30

Gnomad AFR AF: 0.314

Gnomad AMI AF: 0.498

Gnomad AMR AF: 0.483

Gnomad ASJ AF: 0.563

Gnomad EAS AF: 0.450

Gnomad SAS AF: 0.451

Gnomad FIN AF: 0.506

Gnomad MID AF: 0.544

Gnomad NFE AF: 0.477

Gnomad OTH AF: 0.468

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

GnomAD4 genome AF: 0.436 AC: 66139 AN: 151830 Hom.: 14846 Cov.: 30 AF XY: 0.439 AC XY: 32569 AN XY: 74198

African (AFR) AF: 0.314 AC: 12994 AN: 41390

American (AMR) AF: 0.483 AC: 7369 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.563 AC: 1952 AN: 3470

East Asian (EAS) AF: 0.450 AC: 2310 AN: 5128

South Asian (SAS) AF: 0.451 AC: 2168 AN: 4808

European-Finnish (FIN) AF: 0.506 AC: 5331 AN: 10540

Middle Eastern (MID) AF: 0.558 AC: 164 AN: 294

European-Non Finnish (NFE) AF: 0.477 AC: 32420 AN: 67924

Other (OTH) AF: 0.464 AC: 978 AN: 2110

Alfa AF: 0.444 Hom.: 6795

Bravo AF: 0.432

Asia WGS AF: 0.400 AC: 1393 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.7
DANN	Benign	0.37
PhyloP100		0.24

Splicing

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

Other links and lift over

dbSNP: rs6937795; hg19: chr6-137291281;