rs17103265

Variant names:

• chr14-35405502-GA-G
• rs17103265

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The variant allele was found at a frequency of 0.0197 in 152,254 control chromosomes in the GnomAD database, including 121 homozygotes. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.020 (121 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 1.14

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 14-35405502-GA-G is Benign according to our data. Variant chr14-35405502-GA-G is described in ClinVar as [Benign]. Clinvar id is 1168279.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.166 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: 0.0197 AC: 2995 AN: 152136 Hom.: 121 Cov.: 30

Gnomad AFR AF: 0.0280

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0109

Gnomad ASJ AF: 0.00144

Gnomad EAS AF: 0.176

Gnomad SAS AF: 0.0716

Gnomad FIN AF: 0.0237

Gnomad MID AF: 0.0253

Gnomad NFE AF: 0.00153

Gnomad OTH AF: 0.0201

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

GnomAD4 genome AF: 0.0197 AC: 2997 AN: 152254 Hom.: 121 Cov.: 30 AF XY: 0.0228 AC XY: 1694 AN XY: 74438

Gnomad4 AFR AF: 0.0281

Gnomad4 AMR AF: 0.0109

Gnomad4 ASJ AF: 0.00144

Gnomad4 EAS AF: 0.175

Gnomad4 SAS AF: 0.0713

Gnomad4 FIN AF: 0.0237

Gnomad4 NFE AF: 0.00153

Gnomad4 OTH AF: 0.0209

Alfa AF: 0.00967 Hom.: 5

Bravo AF: 0.0191

Asia WGS AF: 0.145 AC: 504 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

Ectodermal dysplasia and immunodeficiency 2 Benign:1

Dec 09, 2024

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

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Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17103265; hg19: chr14-35874708;