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NM_152609.3(CNST):c.1510G>C (p.Asp504His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 29, 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:
RCV004442043.1

Allele description [Variation Report for NM_152609.3(CNST):c.1510G>C (p.Asp504His)]

NM_152609.3(CNST):c.1510G>C (p.Asp504His)

Genes:
LOC126806085:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:246810364-246811563 [Gene]
CNST:consortin, connexin sorting protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q44
Genomic location:
Preferred name:
NM_152609.3(CNST):c.1510G>C (p.Asp504His)
HGVS:
  • NC_000001.11:g.246647711G>C
  • NG_082409.1:g.750G>C
  • NM_001139459.2:c.1510G>C
  • NM_152609.3:c.1510G>CMANE SELECT
  • NP_001132931.1:p.Asp504His
  • NP_689822.2:p.Asp504His
  • NC_000001.10:g.246811013G>C
  • NM_152609.2:c.1510G>C
Protein change:
D504H
Molecular consequence:
  • NM_001139459.2:c.1510G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152609.3:c.1510G>C - 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
SCV004926543Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 29, 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, SCV004926543.1

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

Description

The c.1510G>C (p.D504H) alteration is located in exon 9 (coding exon 8) of the CNST gene. This alteration results from a G to C substitution at nucleotide position 1510, causing the aspartic acid (D) at amino acid position 504 to be replaced by a histidine (H). 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