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NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp) AND Common variable immunodeficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2019
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:
RCV001027641.1

Allele description [Variation Report for NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp)]

NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp)

Gene:
TTC7A:tetratricopeptide repeat domain 7A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp)
HGVS:
  • NC_000002.12:g.46993478C>T
  • NG_034143.2:g.82350C>T
  • NM_001288951.2:c.793C>T
  • NM_001288953.2:c.691C>T
  • NM_001288955.2:c.-112C>T
  • NM_020458.4:c.793C>TMANE SELECT
  • NP_001275880.1:p.Arg265Trp
  • NP_001275882.1:p.Arg231Trp
  • NP_065191.2:p.Arg265Trp
  • LRG_1323t1:c.793C>T
  • LRG_1323:g.82350C>T
  • LRG_1323p1:p.Arg265Trp
  • NC_000002.11:g.47220617C>T
  • NG_034143.1:g.82350C>T
  • NM_020458.3:c.793C>T
Protein change:
R231W
Links:
dbSNP: rs150269540
NCBI 1000 Genomes Browser:
rs150269540
Molecular consequence:
  • NM_001288955.2:c.-112C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001288951.2:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288953.2:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020458.4:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Common variable immunodeficiency (CVID)
Synonyms:
Common variable hypogamma-globulinemia; Common variable agammaglobulinemia
Identifiers:
MONDO: MONDO:0015517; MedGen: C0009447; Orphanet: 1572; OMIM: PS607594

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190213NIHR Bioresource Rare Diseases, University of Cambridge
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2019) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedresearch

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 NIHR Bioresource Rare Diseases, University of Cambridge, SCV001190213.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024