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NM_004004.6(GJB2):c.524C>G (p.Pro175Arg) AND Autosomal dominant keratitis-ichthyosis-hearing loss syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 1, 2021
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:
RCV001730114.1

Allele description [Variation Report for NM_004004.6(GJB2):c.524C>G (p.Pro175Arg)]

NM_004004.6(GJB2):c.524C>G (p.Pro175Arg)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.524C>G (p.Pro175Arg)
HGVS:
  • NC_000013.11:g.20189058G>C
  • NG_008358.1:g.8918C>G
  • NM_004004.6:c.524C>GMANE SELECT
  • NP_003995.2:p.Pro175Arg
  • LRG_1350t1:c.524C>G
  • LRG_1350:g.8918C>G
  • LRG_1350p1:p.Pro175Arg
  • NC_000013.10:g.20763197G>C
Protein change:
P175R
Links:
dbSNP: rs2137307322
NCBI 1000 Genomes Browser:
rs2137307322
Molecular consequence:
  • NM_004004.6:c.524C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Synonyms:
Keratitis-ichthyosis-deafness syndrome, autosomal dominant; KID syndrome, autosomal dominant; Senter syndrome
Identifiers:
MONDO: MONDO:0007850; MedGen: C0265336; Orphanet: 477; OMIM: 148210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001976972Laboratory of Medical Genetics, National & Kapodistrian University of Athens
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 1, 2021) 		paternalclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.

Marinakis NM, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis FN, Kosma K, Tsoutsou E, Fryssira H, Traeger-Synodinos J.

Am J Med Genet A. 2021 Aug;185(8):2561-2571. doi: 10.1002/ajmg.a.62338. Epub 2021 May 19.

PubMed [citation]
PMID:
34008892

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV001976972.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

PM1, PM2, PP2, PP3

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

Last Updated: Jan 26, 2024