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NM_000424.4(KRT5):c.504G>C (p.Glu168Asp) AND Epidermolysis bullosa simplex 2B, generalized intermediate

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 23, 2022
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:
RCV002282740.1

Allele description [Variation Report for NM_000424.4(KRT5):c.504G>C (p.Glu168Asp)]

NM_000424.4(KRT5):c.504G>C (p.Glu168Asp)

Gene:
KRT5:keratin 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000424.4(KRT5):c.504G>C (p.Glu168Asp)
Other names:
p.Glu168Asp
HGVS:
  • NC_000012.12:g.52519793C>G
  • NG_008297.1:g.5667G>C
  • NM_000424.4:c.504G>CMANE SELECT
  • NP_000415.2:p.Glu168Asp
  • NC_000012.11:g.52913577C>G
Protein change:
E168D
Molecular consequence:
  • NM_000424.4:c.504G>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Uncertain function
Observations:
1

Condition(s)

Name:
Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B)
Synonyms:
Epidermolysis bullosa simplex 2B, Koebner type
Identifiers:
MONDO: MONDO:0030525; MedGen: C5562009; OMIM: 619588

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002569379Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 23, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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 Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV002569379.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

A homozygous missense variation in exon 1 of the KRT5 gene that results in the amino acid substitution of Aspartic for Glutamic acid at codon 168 was detected. The observed variant c.504G>C (p.Glu168Asp) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 24, 2022