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NM_015448.3(DPCD):c.590A>G (p.Asp197Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 13, 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:
RCV004384267.1

Allele description [Variation Report for NM_015448.3(DPCD):c.590A>G (p.Asp197Gly)]

NM_015448.3(DPCD):c.590A>G (p.Asp197Gly)

Gene:
DPCD:deleted in primary ciliary dyskinesia homolog (mouse) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.32
Genomic location:
Preferred name:
NM_015448.3(DPCD):c.590A>G (p.Asp197Gly)
HGVS:
  • NC_000010.11:g.101609449A>G
  • NG_008091.1:g.90538T>C
  • NG_051289.1:g.26162A>G
  • NM_001329742.2:c.623A>G
  • NM_001329743.2:c.554A>G
  • NM_001329744.2:c.*118A>G
  • NM_001329745.2:c.323A>G
  • NM_015448.3:c.590A>GMANE SELECT
  • NP_001316671.1:p.Asp208Gly
  • NP_001316672.1:p.Asp185Gly
  • NP_001316674.1:p.Asp108Gly
  • NP_056263.1:p.Asp197Gly
  • NC_000010.10:g.103369206A>G
  • NM_015448.1:c.590A>G
Protein change:
D108G
Molecular consequence:
  • NM_001329744.2:c.*118A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001329742.2:c.623A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329743.2:c.554A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329745.2:c.323A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015448.3:c.590A>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
SCV004860608Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 13, 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, SCV004860608.1

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

Description

The c.590A>G (p.D197G) alteration is located in exon 6 (coding exon 6) of the DPCD gene. This alteration results from a A to G substitution at nucleotide position 590, causing the aspartic acid (D) at amino acid position 197 to be replaced by a glycine (G). 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