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NM_000424.4(KRT5):c.110G>A (p.Arg37Gln) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 8, 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:
RCV002480117.1

Allele description [Variation Report for NM_000424.4(KRT5):c.110G>A (p.Arg37Gln)]

NM_000424.4(KRT5):c.110G>A (p.Arg37Gln)

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.110G>A (p.Arg37Gln)
HGVS:
  • NC_000012.12:g.52520187C>T
  • NG_008297.1:g.5273G>A
  • NM_000424.4:c.110G>AMANE SELECT
  • NP_000415.2:p.Arg37Gln
  • NC_000012.11:g.52913971C>T
  • NM_000424.3:c.110G>A
Protein change:
R37Q
Links:
dbSNP: rs61747181
NCBI 1000 Genomes Browser:
rs61747181
Molecular consequence:
  • NM_000424.4:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermolysis bullosa simplex with migratory circinate erythema
Synonyms:
EBS-migr; Epidermolysis bullosa simplex 2E, with migratory circinate erythema
Identifiers:
MONDO: MONDO:0012258; MedGen: C1836284; Orphanet: 158681; OMIM: 609352
Name:
Epidermolysis bullosa simplex with mottled pigmentation (EBS2F)
Synonyms:
SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES AND CHILDHOOD BLISTERING; EBS with mottled pigmentation; Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007556; MedGen: C0432316; Orphanet: 79397; OMIM: 131960
Name:
Epidermolysis bullosa simplex 1A, generalized severe (EBS1A)
Synonyms:
Epidermolysis bullosa herpetiformis, Dowling-Meara; Epidermolysis bullosa simplex Dowling-Meara type
Identifiers:
MONDO: MONDO:0007550; MedGen: C0079295; Orphanet: 79396; OMIM: 131760
Name:
Dowling-Degos disease 1
Identifiers:
MONDO: MONDO:0024534; MedGen: C4552092; Orphanet: 79145; OMIM: 179850
Name:
Epidermolysis bullosa simplex 2A, generalized severe
Synonyms:
Epidermolysis bullosa simplex 2, generalized severe; Epidermolysis bullosa simplex 2, Dowling-Meara type; Epidermolysis bullosa simplex 2, severe
Identifiers:
MONDO: MONDO:0030489; MedGen: CN301077; OMIM: 619555
Name:
Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B)
Synonyms:
Epidermolysis bullosa simplex 2B, Koebner type
Identifiers:
MONDO: MONDO:0030525; MedGen: C5562009; OMIM: 619588
Name:
Epidermolysis bullosa simplex 2C, localized (EBS2C)
Synonyms:
Epidermolysis bullosa simplex 2C, Weber-Cockayne type
Identifiers:
MONDO: MONDO:0030527; MedGen: C5562011; OMIM: 619594
Name:
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
Identifiers:
MONDO: MONDO:0030535; MedGen: C5562014; OMIM: 619599

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002794696Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jan 8, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot 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 Fulgent Genetics, Fulgent Genetics, SCV002794696.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024