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NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) AND Intellectual disability, autosomal recessive 3

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jan 7, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000662088.13

Allele description [Variation Report for NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)]

NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)

Gene:
CC2D1A:coiled-coil and C2 domain containing 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.12
Genomic location:
Preferred name:
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)
HGVS:
  • NC_000019.10:g.13919829A>G
  • NG_013089.1:g.18687A>G
  • NM_017721.5:c.1234A>GMANE SELECT
  • NP_060191.3:p.Ile412Val
  • NC_000019.9:g.14030642A>G
  • NM_017721.4:c.1234A>G
Protein change:
I412V
Links:
dbSNP: rs191830054
NCBI 1000 Genomes Browser:
rs191830054
Molecular consequence:
  • NM_017721.5:c.1234A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Intellectual disability, autosomal recessive 3 (MRT3)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 3
Identifiers:
MONDO: MONDO:0012037; MedGen: C1838023; Orphanet: 88616; OMIM: 608443

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000784427Genomic Research Center, Shahid Beheshti University of Medical Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Mar 5, 2018)
inheritedclinical testing

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

SCV001524407Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jan 7, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedinheritedno1not 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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000784427.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritednonot providednot providednot provided1not providednot providednot provided

From Baylor Genetics, SCV001524407.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024