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NM_025140.3(CCDC92):c.916G>A (p.Glu306Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 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:
RCV004430466.1

Allele description [Variation Report for NM_025140.3(CCDC92):c.916G>A (p.Glu306Lys)]

NM_025140.3(CCDC92):c.916G>A (p.Glu306Lys)

Gene:
CCDC92:coiled-coil domain containing 92 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_025140.3(CCDC92):c.916G>A (p.Glu306Lys)
HGVS:
  • NC_000012.12:g.123937138C>T
  • NM_001304957.2:c.916G>A
  • NM_001304958.2:c.916G>A
  • NM_001304959.2:c.916G>A
  • NM_001304960.2:c.916G>A
  • NM_001304961.2:c.865G>A
  • NM_025140.3:c.916G>AMANE SELECT
  • NP_001291886.1:p.Glu306Lys
  • NP_001291887.1:p.Glu306Lys
  • NP_001291888.1:p.Glu306Lys
  • NP_001291889.1:p.Glu306Lys
  • NP_001291890.1:p.Glu289Lys
  • NP_079416.1:p.Glu306Lys
  • NC_000012.11:g.124421685C>T
  • NM_025140.1:c.916G>A
Protein change:
E289K
Molecular consequence:
  • NM_001304957.2:c.916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304958.2:c.916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304959.2:c.916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304960.2:c.916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304961.2:c.865G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025140.3:c.916G>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
SCV004921160Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 15, 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, SCV004921160.1

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

Description

The c.916G>A (p.E306K) alteration is located in exon 5 (coding exon 4) of the CCDC92 gene. This alteration results from a G to A substitution at nucleotide position 916, causing the glutamic acid (E) at amino acid position 306 to be replaced by a lysine (K). 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: May 7, 2024