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NM_017607.4(PPP1R12C):c.1875C>G (p.His625Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 26, 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:
RCV004507267.1

Allele description [Variation Report for NM_017607.4(PPP1R12C):c.1875C>G (p.His625Gln)]

NM_017607.4(PPP1R12C):c.1875C>G (p.His625Gln)

Gene:
PPP1R12C:protein phosphatase 1 regulatory subunit 12C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_017607.4(PPP1R12C):c.1875C>G (p.His625Gln)
HGVS:
  • NC_000019.10:g.55092819G>C
  • NM_001271618.2:c.1869C>G
  • NM_017607.4:c.1875C>GMANE SELECT
  • NP_001258547.1:p.His623Gln
  • NP_060077.1:p.His625Gln
  • NC_000019.9:g.55604187G>C
  • NM_017607.2:c.1875C>G
Protein change:
H623Q
Molecular consequence:
  • NM_001271618.2:c.1869C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017607.4:c.1875C>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
SCV005008066Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 26, 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, SCV005008066.1

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

Description

The c.1875C>G (p.H625Q) alteration is located in exon 16 (coding exon 16) of the PPP1R12C gene. This alteration results from a C to G substitution at nucleotide position 1875, causing the histidine (H) at amino acid position 625 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