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NM_006663.4(PPP1R13L):c.1079A>C (p.Gln360Pro) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 18, 2021
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:
RCV002692660.2

Allele description [Variation Report for NM_006663.4(PPP1R13L):c.1079A>C (p.Gln360Pro)]

NM_006663.4(PPP1R13L):c.1079A>C (p.Gln360Pro)

Gene:
PPP1R13L:protein phosphatase 1 regulatory subunit 13 like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_006663.4(PPP1R13L):c.1079A>C (p.Gln360Pro)
HGVS:
  • NC_000019.10:g.45395711T>G
  • NM_001142502.2:c.1079A>C
  • NM_006663.4:c.1079A>CMANE SELECT
  • NP_001135974.1:p.Gln360Pro
  • NP_006654.2:p.Gln360Pro
  • NC_000019.9:g.45898969T>G
  • NM_001142502.1:c.1079A>C
Protein change:
Q360P
Molecular consequence:
  • NM_001142502.2:c.1079A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006663.4:c.1079A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003554380Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 18, 2021) 		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, SCV003554380.2

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

Description

The c.1079A>C (p.Q360P) alteration is located in exon 7 (coding exon 6) of the PPP1R13L gene. This alteration results from a A to C substitution at nucleotide position 1079, causing the glutamine (Q) at amino acid position 360 to be replaced by a proline (P). 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 1, 2024