U.S. flag

An official website of the United States government

  • delete

NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys) AND Hereditary factor VIII deficiency disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 7, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004526222.1

Allele description

NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)

Gene:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
HGVS:
  • NC_000010.11:g.71778222G>A
  • NG_008835.1:g.386276G>A
  • NM_022124.6:c.5101G>AMANE SELECT
  • NP_071407.4:p.Glu1701Lys
  • NC_000010.10:g.73537979G>A
Protein change:
E1701K
Molecular consequence:
  • NM_022124.6:c.5101G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary factor VIII deficiency disease (HEMA)
Synonyms:
AUTOSOMAL HEMOPHILIA A; Hemophilia A; Hemophilia A, congenital; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010602; MedGen: C0019069; Orphanet: 98878; OMIM: 134500; OMIM: 306700

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005040052Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Mar 7, 2024) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Ganapathy A, Pandey N, Srisailapathy CR, Jalvi R, Malhotra V, Venkatappa M, Chatterjee A, Sharma M, Santhanam R, Chadha S, Ramesh A, Agarwal AK, Rangasayee RR, Anand A.

PLoS One. 2014;9(1):e84773. doi: 10.1371/journal.pone.0084773.

PubMed [citation]
PMID:
24416283
PMCID:
PMC3885616

Identification of a novel CDH23 gene variant associated with non-syndromic progressive hearing loss in a Chinese family: Individualized hearing rehabilitation guided by genetic diagnosis.

Chen Y, Li Y, Ren Y, Li H, Huang M, Jia H, Yang T, Wang Z, Huang Z, Wu H.

Int J Pediatr Otorhinolaryngol. 2019 Dec;127:109649. doi: 10.1016/j.ijporl.2019.109649. Epub 2019 Aug 19. No abstract available.

PubMed [citation]
PMID:
31445392
See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005040052.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

Variant summary: F8 c.5101G>A (p.Glu1701Lys) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 180470 control chromosomes. c.5101G>A has been reported in the literature in individuals affected with Factor VIII Deficiency (Hemophilia A). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 2683573). Based on the evidence outlined above, the variant was classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024