rs9264942

Variant names:

• chr6-31306603-T-C
• rs9264942
• ENST00000755297.1:n.32+35497T>C

Variant summary

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

The ENST00000755297.1(ENSG00000298396):​n.32+35497T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.344 in 152,040 control chromosomes in the GnomAD database, including 9,279 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as risk factor (no stars).

• Frequency: Genomes: 𝑓 0.34 (9279 hom., cov: 32)
• Consequence: ENSG00000298396 ENST00000755297.1 intron
• Clinical Significance: risk factor no assertion criteria provided O:1
• Conservation: PhyloP100: -1.43
• Publications: 195 publications found

Genes affected

ENSG00000298396 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.491 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC112267902	XR_926691.3	n.964+175A>G		intron_variant	Intron 3 of 4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000298396	ENST00000755297.1	n.32+35497T>C		intron_variant	Intron 1 of 1

Frequencies

GnomAD3 genomes AF: 0.344 AC: 52288 AN: 151922 Hom.: 9281 Cov.: 32

Gnomad AFR AF: 0.303

Gnomad AMI AF: 0.407

Gnomad AMR AF: 0.310

Gnomad ASJ AF: 0.580

Gnomad EAS AF: 0.394

Gnomad SAS AF: 0.508

Gnomad FIN AF: 0.271

Gnomad MID AF: 0.399

Gnomad NFE AF: 0.359

Gnomad OTH AF: 0.369

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

GnomAD4 genome AF: 0.344 AC: 52309 AN: 152040 Hom.: 9279 Cov.: 32 AF XY: 0.343 AC XY: 25522 AN XY: 74318

African (AFR) AF: 0.303 AC: 12572 AN: 41438

American (AMR) AF: 0.310 AC: 4739 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.580 AC: 2014 AN: 3470

East Asian (EAS) AF: 0.394 AC: 2032 AN: 5158

South Asian (SAS) AF: 0.508 AC: 2450 AN: 4824

European-Finnish (FIN) AF: 0.271 AC: 2870 AN: 10586

Middle Eastern (MID) AF: 0.398 AC: 117 AN: 294

European-Non Finnish (NFE) AF: 0.359 AC: 24370 AN: 67952

Other (OTH) AF: 0.367 AC: 775 AN: 2114

Alfa AF: 0.356 Hom.: 42381

Bravo AF: 0.344

Asia WGS AF: 0.420 AC: 1461 AN: 3478

ClinVar

Significance: risk factor

Submissions summary: Other:1

Revision: no assertion criteria provided

Submissions by phenotype

HIV-1 VIREMIA, SUSCEPTIBILITY TO Other:1

Dec 01, 2009

OMIM

Significance: risk factor

Review Status: no assertion criteria provided

Collection Method: literature only

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	4.4
DANN	Benign	0.71
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs9264942; hg19: chr6-31274380;