rs1951269

Variant names:

• chr14-35411536-A-C
• rs1951269
• ENST00000848537.1:n.241+8149A>C

Your query was ambiguous. Multiple possible variants found:

• chr14-35411536-A-C
• chr14-35411536-A-G

Variant summary

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

The ENST00000848537.1(ENSG00000310246):​n.241+8149A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.348 in 152,030 control chromosomes in the GnomAD database, including 9,779 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 0.35 (9779 hom., cov: 31)
• Consequence: ENSG00000310246 ENST00000848537.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19
• Publications: 11 publications found

Genes affected

ENSG00000310246 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.516 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
ENSG00000310246	ENST00000848537.1	n.241+8149A>C		intron_variant	Intron 1 of 1

Frequencies

GnomAD3 genomes AF: 0.348 AC: 52878 AN: 151912 Hom.: 9770 Cov.: 31

Gnomad AFR AF: 0.221

Gnomad AMI AF: 0.165

Gnomad AMR AF: 0.296

Gnomad ASJ AF: 0.380

Gnomad EAS AF: 0.533

Gnomad SAS AF: 0.481

Gnomad FIN AF: 0.494

Gnomad MID AF: 0.367

Gnomad NFE AF: 0.392

Gnomad OTH AF: 0.334

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

GnomAD4 genome AF: 0.348 AC: 52906 AN: 152030 Hom.: 9779 Cov.: 31 AF XY: 0.354 AC XY: 26336 AN XY: 74310

African (AFR) AF: 0.221 AC: 9150 AN: 41494

American (AMR) AF: 0.296 AC: 4524 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.380 AC: 1318 AN: 3468

East Asian (EAS) AF: 0.533 AC: 2747 AN: 5158

South Asian (SAS) AF: 0.481 AC: 2317 AN: 4822

European-Finnish (FIN) AF: 0.494 AC: 5207 AN: 10542

Middle Eastern (MID) AF: 0.364 AC: 107 AN: 294

European-Non Finnish (NFE) AF: 0.392 AC: 26668 AN: 67958

Other (OTH) AF: 0.340 AC: 718 AN: 2110

Alfa AF: 0.335 Hom.: 3575

Bravo AF: 0.325

Asia WGS AF: 0.510 AC: 1769 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.12
DANN	Benign	0.53
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs1951269; hg19: chr14-35880742;