13-111556870-C-T

Variant names:

• chr13-111556870-C-T
• rs4771759

Variant summary

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

The variant allele was found at a frequency of 0.3 in 152,092 control chromosomes in the GnomAD database, including 7,142 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 0.30 (7142 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.58
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.438 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

Frequencies

GnomAD3 genomes AF: 0.300 AC: 45634 AN: 151974 Hom.: 7143 Cov.: 32

Gnomad AFR AF: 0.217

Gnomad AMI AF: 0.282

Gnomad AMR AF: 0.375

Gnomad ASJ AF: 0.348

Gnomad EAS AF: 0.428

Gnomad SAS AF: 0.454

Gnomad FIN AF: 0.312

Gnomad MID AF: 0.351

Gnomad NFE AF: 0.309

Gnomad OTH AF: 0.317

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

GnomAD4 genome AF: 0.300 AC: 45640 AN: 152092 Hom.: 7142 Cov.: 32 AF XY: 0.307 AC XY: 22834 AN XY: 74344

African (AFR) AF: 0.217 AC: 8986 AN: 41488

American (AMR) AF: 0.375 AC: 5724 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.348 AC: 1207 AN: 3470

East Asian (EAS) AF: 0.427 AC: 2210 AN: 5176

South Asian (SAS) AF: 0.453 AC: 2183 AN: 4814

European-Finnish (FIN) AF: 0.312 AC: 3296 AN: 10566

Middle Eastern (MID) AF: 0.347 AC: 102 AN: 294

European-Non Finnish (NFE) AF: 0.309 AC: 21008 AN: 67986

Other (OTH) AF: 0.316 AC: 667 AN: 2110

Alfa AF: 0.306 Hom.: 27958

Bravo AF: 0.296

Asia WGS AF: 0.413 AC: 1437 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.10
DANN	Benign	0.48
PhyloP100		-2.6

Splicing

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

Other links and lift over

dbSNP: rs4771759; hg19: chr13-112209217;