4-12497263-C-T

Variant names:

• chr4-12497263-C-T
• rs7665957
• ENST00000808832.1:n.164-26533G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BS1 BS2

The ENST00000808832.1(ENSG00000305112):​n.164-26533G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.014 in 151,346 control chromosomes in the GnomAD database, including 45 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 0.014 (45 hom., cov: 32)
• Consequence: ENSG00000305112 ENST00000808832.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.170
• Publications: 1 publications found

Genes affected

ENSG00000305112 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BS1: Variant frequency is greater than expected in population afr. GnomAd4 allele frequency = 0.014 (2118/151346) while in subpopulation AFR AF = 0.0481 (1984/41276). AF 95% confidence interval is 0.0463. There are 45 homozygotes in GnomAd4. There are 1007 alleles in the male GnomAd4 subpopulation. Median coverage is 32. This position passed quality control check.
• BS2: High Homozygotes in GnomAd4 at 45 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105374492	XR_001741374.1	n.255-26533G>A		intron_variant	Intron 1 of 2
LOC105374492	XR_001741375.1	n.676-26533G>A		intron_variant	Intron 1 of 2
LOC105374492	XR_925406.4	n.478-26533G>A		intron_variant	Intron 1 of 2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000305112	ENST00000808832.1	n.164-26533G>A		intron_variant	Intron 1 of 3
ENSG00000305112	ENST00000808833.1	n.348-26533G>A		intron_variant	Intron 1 of 3
ENSG00000305112	ENST00000808834.1	n.264-26533G>A		intron_variant	Intron 2 of 4

Frequencies

GnomAD3 genomes AF: 0.0140 AC: 2114 AN: 151228 Hom.: 45 Cov.: 32

Gnomad AFR AF: 0.0481

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00609

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00318

Gnomad NFE AF: 0.000280

Gnomad OTH AF: 0.0106

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

GnomAD4 genome AF: 0.0140 AC: 2118 AN: 151346 Hom.: 45 Cov.: 32 AF XY: 0.0136 AC XY: 1007 AN XY: 73840

African (AFR) AF: 0.0481 AC: 1984 AN: 41276

American (AMR) AF: 0.00608 AC: 92 AN: 15122

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3464

East Asian (EAS) AF: 0.00 AC: 0 AN: 5084

South Asian (SAS) AF: 0.00 AC: 0 AN: 4798

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10458

Middle Eastern (MID) AF: 0.00342 AC: 1 AN: 292

European-Non Finnish (NFE) AF: 0.000280 AC: 19 AN: 67842

Other (OTH) AF: 0.0105 AC: 22 AN: 2098

Alfa AF: 0.0129 Hom.: 33

Bravo AF: 0.0163

Asia WGS AF: 0.00346 AC: 12 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.5
DANN	Benign	0.70
PhyloP100		0.17

Splicing

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

Other links and lift over

dbSNP: rs7665957; hg19: chr4-12498887;