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NM_001942.4(DSG1):c.2216T>C (p.Ile739Thr) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 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:
RCV002489417.2

Allele description [Variation Report for NM_001942.4(DSG1):c.2216T>C (p.Ile739Thr)]

NM_001942.4(DSG1):c.2216T>C (p.Ile739Thr)

Genes:
DSG1-AS1:DSG1 antisense RNA 1 [Gene - HGNC]
LOC126862720:MED14-independent group 3 enhancer GRCh37_chr18:28933613-28934812 [Gene]
DSG1:desmoglein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001942.4(DSG1):c.2216T>C (p.Ile739Thr)
HGVS:
  • NC_000018.10:g.31354412T>C
  • NG_011803.2:g.41324T>C
  • NM_001942.4:c.2216T>CMANE SELECT
  • NP_001933.2:p.Ile739Thr
  • NC_000018.9:g.28934375T>C
  • NM_001942.3:c.2216T>C
  • NR_110788.1:n.198A>G
Protein change:
I739T
Links:
dbSNP: rs117656447
NCBI 1000 Genomes Browser:
rs117656447
Molecular consequence:
  • NM_001942.4:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110788.1:n.198A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Palmoplantar keratoderma i, striate, focal, or diffuse
Synonyms:
KERATOSIS PALMOPLANTARIS STRIATA I; KERATODERMA, PALMOPLANTAR, STRIATE FORM I; STRIATE PALMOPLANTAR KERATODERMA I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007859; MedGen: C2931122; Orphanet: 369999; Orphanet: 370002; OMIM: 148700
Name:
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Synonyms:
ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, RECURRENT INFECTIONS, AND MULTIPLE FOOD ALLERGIES; SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME; SAM SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0014218; MedGen: C3809719; Orphanet: 369992; OMIM: 615508

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002803451Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Nov 1, 2021) 		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, SCV002803451.1

#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 20, 2024