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NM_022365.4(DNAJC1):c.808G>C (p.Glu270Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 22, 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:
RCV004379314.1

Allele description [Variation Report for NM_022365.4(DNAJC1):c.808G>C (p.Glu270Gln)]

NM_022365.4(DNAJC1):c.808G>C (p.Glu270Gln)

Gene:
DNAJC1:DnaJ heat shock protein family (Hsp40) member C1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p12.31
Genomic location:
Preferred name:
NM_022365.4(DNAJC1):c.808G>C (p.Glu270Gln)
HGVS:
  • NC_000010.11:g.21904534C>G
  • NM_022365.4:c.808G>CMANE SELECT
  • NP_071760.2:p.Glu270Gln
  • NC_000010.10:g.22193463C>G
  • NM_022365.3:c.808G>C
Protein change:
E270Q
Molecular consequence:
  • NM_022365.4:c.808G>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
SCV004859105Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 22, 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, SCV004859105.1

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

Description

The c.808G>C (p.E270Q) alteration is located in exon 7 (coding exon 7) of the DNAJC1 gene. This alteration results from a G to C substitution at nucleotide position 808, causing the glutamic acid (E) at amino acid position 270 to be replaced by a glutamine (Q). 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