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NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) AND CC2D2A-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 25, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004541523.2

Allele description [Variation Report for NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)]

NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)

Gene:
CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p15.32
Genomic location:
Preferred name:
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)
HGVS:
  • NC_000004.12:g.15601291G>A
  • NG_013035.1:g.136426G>A
  • NM_001080522.2:c.4729G>A
  • NM_001378615.1:c.4729G>AMANE SELECT
  • NM_001378617.1:c.4582G>A
  • NP_001073991.2:p.Ala1577Thr
  • NP_001365544.1:p.Ala1577Thr
  • NP_001365546.1:p.Ala1528Thr
  • LRG_697t1:c.4729G>A
  • LRG_697:g.136426G>A
  • LRG_697p1:p.Ala1577Thr
  • NC_000004.11:g.15602914G>A
Protein change:
A1528T
Links:
dbSNP: rs199695154
NCBI 1000 Genomes Browser:
rs199695154
Molecular consequence:
  • NM_001080522.2:c.4729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378615.1:c.4729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378617.1:c.4582G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CC2D2A-related disorder
Synonyms:
CC2D2A-Related Disorders; CC2D2A-related condition
Identifiers:
MedGen: CN239313

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004766459PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jan 25, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004766459.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CC2D2A c.4729G>A variant is predicted to result in the amino acid substitution p.Ala1577Thr. To our knowledge, this variant has not been reported in the literature. Pathogenic variants in CC2D2A are associated with autosomal recessive Joubert syndrome (OMIM: #612285), Meckel syndrome (OMIM: #612284), and COACH syndrome (OMIM: #216360). This variant is reported in 0.14% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 24, 2024