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NM_016463.9(CXXC5):c.37G>A (p.Gly13Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 4, 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:
RCV004367633.1

Allele description [Variation Report for NM_016463.9(CXXC5):c.37G>A (p.Gly13Ser)]

NM_016463.9(CXXC5):c.37G>A (p.Gly13Ser)

Gene:
CXXC5:CXXC finger protein 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.2
Genomic location:
Preferred name:
NM_016463.9(CXXC5):c.37G>A (p.Gly13Ser)
HGVS:
  • NC_000005.10:g.139680560G>A
  • NM_001317199.2:c.37G>A
  • NM_001317200.2:c.37G>A
  • NM_001317201.2:c.37G>A
  • NM_001317202.2:c.37G>A
  • NM_001317203.2:c.37G>A
  • NM_001317204.2:c.37G>A
  • NM_001317205.2:c.37G>A
  • NM_001317206.2:c.37G>A
  • NM_001317207.2:c.37G>A
  • NM_001317208.2:c.37G>A
  • NM_001317209.2:c.37G>A
  • NM_001317210.2:c.37G>A
  • NM_001317211.2:c.37G>A
  • NM_016463.9:c.37G>AMANE SELECT
  • NP_001304128.1:p.Gly13Ser
  • NP_001304129.1:p.Gly13Ser
  • NP_001304130.1:p.Gly13Ser
  • NP_001304131.1:p.Gly13Ser
  • NP_001304132.1:p.Gly13Ser
  • NP_001304133.1:p.Gly13Ser
  • NP_001304134.1:p.Gly13Ser
  • NP_001304135.1:p.Gly13Ser
  • NP_001304136.1:p.Gly13Ser
  • NP_001304137.1:p.Gly13Ser
  • NP_001304138.1:p.Gly13Ser
  • NP_001304139.1:p.Gly13Ser
  • NP_001304140.1:p.Gly13Ser
  • NP_057547.5:p.Gly13Ser
  • NC_000005.9:g.139060145G>A
  • NM_016463.7:c.37G>A
Protein change:
G13S
Molecular consequence:
  • NM_001317199.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317200.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317201.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317202.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317203.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317204.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317205.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317206.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317207.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317208.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317209.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317210.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317211.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016463.9:c.37G>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
SCV004855350Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 4, 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, SCV004855350.1

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

Description

The c.37G>A (p.G13S) alteration is located in exon 2 (coding exon 1) of the CXXC5 gene. This alteration results from a G to A substitution at nucleotide position 37, causing the glycine (G) at amino acid position 13 to be replaced by a serine (S). 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