rs11738751

Positions:

• chr5-173508176-T-A
• chr5-173508176-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The XR_001743001.1(LOC105377732):​n.3056+586T>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.366 in 151,912 control chromosomes in the GnomAD database, including 10,385 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 0.37 (10385 hom., cov: 31)
• Consequence: LOC105377732 XR_001743001.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.13

Genes affected

LOC105377732 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.453 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LOC105377732	XR_001743001.1	n.3056+586T>A		intron_variant, non_coding_transcript_variant
LOC105377732	XR_007059057.1	n.4116+586T>A		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.365 AC: 55468 AN: 151794 Hom.: 10362 Cov.: 31

Gnomad AFR AF: 0.293

Gnomad AMI AF: 0.434

Gnomad AMR AF: 0.462

Gnomad ASJ AF: 0.329

Gnomad EAS AF: 0.272

Gnomad SAS AF: 0.402

Gnomad FIN AF: 0.388

Gnomad MID AF: 0.320

Gnomad NFE AF: 0.389

Gnomad OTH AF: 0.387

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

GnomAD4 genome AF: 0.366 AC: 55538 AN: 151912 Hom.: 10385 Cov.: 31 AF XY: 0.369 AC XY: 27381 AN XY: 74248

Gnomad4 AFR AF: 0.293

Gnomad4 AMR AF: 0.462

Gnomad4 ASJ AF: 0.329

Gnomad4 EAS AF: 0.272

Gnomad4 SAS AF: 0.403

Gnomad4 FIN AF: 0.388

Gnomad4 NFE AF: 0.389

Gnomad4 OTH AF: 0.392

Alfa AF: 0.384 Hom.: 1401

Bravo AF: 0.368

Asia WGS AF: 0.346 AC: 1204 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.0
DANN	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11738751; hg19: chr5-172935179; COSMIC: COSV60232134;