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NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 27, 2020
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:
RCV002311291.9

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]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000846957Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(May 27, 2020)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project.; et al.

Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30.

PubMed [citation]
PMID:
26350204
PMCID:
PMC4833192

Details of each submission

From Ambry Genetics, SCV000846957.5

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

Description

The p.I412V variant (also known as c.1234A>G), located in coding exon 12 of the CC2D1A gene, results from an A to G substitution at nucleotide position 1234. The isoleucine at codon 412 is replaced by valine, an amino acid with highly similar properties. This variant has co-occurred with variants in other intellectual disability (ID)-related genes in individuals from an ID cohort (Grozeva D et al. Hum. Mutat., 2015 Dec;36:1197-204). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Jul 15, 2024