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NM_152609.3(CNST):c.983A>G (p.His328Arg) AND not specified

Germline classification:
Likely benign (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:
RCV004442048.1

Allele description [Variation Report for NM_152609.3(CNST):c.983A>G (p.His328Arg)]

NM_152609.3(CNST):c.983A>G (p.His328Arg)

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.983A>G (p.His328Arg)
HGVS:
  • NC_000001.11:g.246647184A>G
  • NG_082409.1:g.223A>G
  • NM_001139459.2:c.983A>G
  • NM_152609.3:c.983A>GMANE SELECT
  • NP_001132931.1:p.His328Arg
  • NP_689822.2:p.His328Arg
  • NC_000001.10:g.246810486A>G
  • NM_152609.2:c.983A>G
Protein change:
H328R
Molecular consequence:
  • NM_001139459.2:c.983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152609.3:c.983A>G - 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
SCV004926548Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(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, SCV004926548.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024