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NM_145265.3(CCDC127):c.38G>A (p.Arg13Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 2023
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:
RCV004324553.1

Allele description [Variation Report for NM_145265.3(CCDC127):c.38G>A (p.Arg13Gln)]

NM_145265.3(CCDC127):c.38G>A (p.Arg13Gln)

Gene:
CCDC127:coiled-coil domain containing 127 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_145265.3(CCDC127):c.38G>A (p.Arg13Gln)
HGVS:
  • NC_000005.10:g.216812C>T
  • NG_012339.1:g.3572C>T
  • NG_033064.1:g.6371G>A
  • NM_145265.3:c.38G>AMANE SELECT
  • NP_660308.1:p.Arg13Gln
  • NP_660308.1:p.Arg13Gln
  • LRG_315:g.3572C>T
  • NC_000005.9:g.216927C>T
  • NM_145265.2:c.38G>A
Protein change:
R13Q
Molecular consequence:
  • NM_145265.3:c.38G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003992881Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 31, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003992881.2

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

Description

The c.38G>A (p.R13Q) alteration is located in exon 2 (coding exon 1) of the CCDC127 gene. This alteration results from a G to A substitution at nucleotide position 38, causing the arginine (R) at amino acid position 13 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024