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NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 28, 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:
RCV002495870.2

Allele description [Variation Report for NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup)]

NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup)

Genes:
KRT10-AS1:KRT10 antisense RNA 1 [Gene - HGNC]
KRT10:keratin 10 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup)
HGVS:
  • NC_000017.11:g.40822514TCC[9]
  • NG_008405.1:g.5075GGA[9]
  • NM_000421.5:c.49GGA[9]MANE SELECT
  • NM_001379366.1:c.49GGA[9]
  • NP_000412.4:p.Gly24dup
  • NP_001366295.1:p.Gly24dup
  • NC_000017.10:g.38978766TCC[9]
  • NM_000421.3:c.70_72dupGGA
  • NM_000421.5:c.70_72dupMANE SELECT
Links:
dbSNP: rs148510452
NCBI 1000 Genomes Browser:
rs148510452
Molecular consequence:
  • NM_000421.5:c.49GGA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001379366.1:c.49GGA[9] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Epidermolytic ichthyosis
Synonyms:
Bullous erythroderma ichthyosiformis congenita of Brocq; Bullous ichthyosiform erythroderma congenita; Bullous ichthyosiform erythroderma; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007239; MedGen: C0079153; Orphanet: 312; OMIM: PS113800; Human Phenotype Ontology: HP:0007475
Name:
Congenital reticular ichthyosiform erythroderma (IWC)
Synonyms:
ICHTHYOSIS WITH CONFETTI
Identifiers:
MONDO: MONDO:0012208; MedGen: C3665704; Orphanet: 281190; OMIM: 609165
Name:
Annular epidermolytic ichthyosis
Identifiers:
MONDO: MONDO:0011870; MedGen: C1843463; OMIM: PS607602

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002800575Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jan 28, 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, SCV002800575.1

#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: Oct 13, 2024