• delete

NM_003086.4(SNAPC4):c.2401G>C (p.Asp801His) AND SNAPC4-associated inflammatory disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 2018
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:
RCV000626011.1

Allele description

NM_003086.4(SNAPC4):c.2401G>C (p.Asp801His)

Gene:
SNAPC4:small nuclear RNA activating complex polypeptide 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_003086.4(SNAPC4):c.2401G>C (p.Asp801His)
HGVS:
  • NC_000009.12:g.136380838C>G
  • NG_051233.1:g.24383G>C
  • NM_001394201.1:c.2401G>C
  • NM_001394202.1:c.2317G>C
  • NM_001394203.1:c.2317G>C
  • NM_003086.4:c.2401G>CMANE SELECT
  • NP_001381130.1:p.Asp801His
  • NP_001381131.1:p.Asp773His
  • NP_001381132.1:p.Asp773His
  • NP_003077.2:p.Asp801His
  • NC_000009.11:g.139275290C>G
  • NM_003086.2:c.2401G>C
Protein change:
D773H
Links:
dbSNP: rs139682930
NCBI 1000 Genomes Browser:
rs139682930
Molecular consequence:
  • NM_001394201.1:c.2401G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394202.1:c.2317G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394203.1:c.2317G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003086.4:c.2401G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
SNAPC4-associated inflammatory disease
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000746620Undiagnosed Diseases Network,NIH
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 9, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Portugueseunknownyes1not 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 Undiagnosed Diseases Network,NIH, SCV000746620.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Portuguese1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022