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NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser) AND Intellectual disability, autosomal dominant 14

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 5, 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:
RCV002259980.1

Allele description [Variation Report for NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser)]

NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser)

Gene:
ARID1A:AT-rich interaction domain 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser)
HGVS:
  • NC_000001.11:g.26779209C>T
  • NG_029965.1:g.88179C>T
  • NM_006015.6:c.5311C>TMANE SELECT
  • NM_139135.4:c.4660C>T
  • NP_006006.3:p.Pro1771Ser
  • NP_624361.1:p.Pro1554Ser
  • LRG_875t1:c.5311C>T
  • LRG_875:g.88179C>T
  • NC_000001.10:g.27105700C>T
  • NM_006015.4:c.5311C>T
Protein change:
P1554S
Links:
dbSNP: rs187631645
NCBI 1000 Genomes Browser:
rs187631645
Molecular consequence:
  • NM_006015.6:c.5311C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139135.4:c.4660C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, autosomal dominant 14 (CSS2)
Synonyms:
COFFIN-SIRIS SYNDROME 2
Identifiers:
MONDO: MONDO:0013819; MedGen: C3553247; Orphanet: 1465; OMIM: 614607

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002539487Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Dec 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002539487.1

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

Last Updated: Sep 29, 2024