NM_015291.4(DNAJC16):c.2126G>A (p.Cys709Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 1, 2022
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:
RCV004172386.1

Allele description [Variation Report for NM_015291.4(DNAJC16):c.2126G>A (p.Cys709Tyr)]

NM_015291.4(DNAJC16):c.2126G>A (p.Cys709Tyr)

Gene:
DNAJC16:DnaJ heat shock protein family (Hsp40) member C16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.21
Genomic location:
Preferred name:
NM_015291.4(DNAJC16):c.2126G>A (p.Cys709Tyr)
HGVS:
  • NC_000001.11:g.15567954G>A
  • NM_001287811.2:c.1190G>A
  • NM_015291.4:c.2126G>AMANE SELECT
  • NP_001274740.1:p.Cys397Tyr
  • NP_056106.1:p.Cys709Tyr
  • NC_000001.10:g.15894449G>A
  • NM_015291.2:c.2126G>A
  • NR_109898.2:n.2485G>A
Protein change:
C397Y
Molecular consequence:
  • NM_001287811.2:c.1190G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015291.4:c.2126G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_109898.2:n.2485G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003657981Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 1, 2022) 		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, SCV003657981.2

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

Description

The c.2126G>A (p.C709Y) alteration is located in exon 15 (coding exon 14) of the DNAJC16 gene. This alteration results from a G to A substitution at nucleotide position 2126, causing the cysteine (C) at amino acid position 709 to be replaced by a tyrosine (Y). 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: Oct 26, 2024