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NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) AND not specified

Germline classification:
Likely benign (1 submission)
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:
RCV000116594.14

Allele description [Variation Report for NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr)]

NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr)

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.2716G>A (p.Ala906Thr)
HGVS:
  • NC_000019.10:g.13930083G>A
  • NG_013089.1:g.28941G>A
  • NM_017721.5:c.2716G>AMANE SELECT
  • NP_060191.3:p.Ala906Thr
  • NC_000019.9:g.14040896G>A
  • NM_017721.4:c.2716G>A
Protein change:
A906T
Links:
dbSNP: rs11669628
NCBI 1000 Genomes Browser:
rs11669628
Molecular consequence:
  • NM_017721.5:c.2716G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000150557Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000150557.2

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

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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

Last Updated: Jul 23, 2024