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NM_001145860.2(POP1):c.2999C>T (p.Ala1000Val) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 13, 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:
RCV002670086.2

Allele description [Variation Report for NM_001145860.2(POP1):c.2999C>T (p.Ala1000Val)]

NM_001145860.2(POP1):c.2999C>T (p.Ala1000Val)

Gene:
POP1:POP1 homolog, ribonuclease P/MRP subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.2
Genomic location:
Preferred name:
NM_001145860.2(POP1):c.2999C>T (p.Ala1000Val)
HGVS:
  • NC_000008.11:g.98158195C>T
  • NG_052869.1:g.45903C>T
  • NM_001145860.2:c.2999C>TMANE SELECT
  • NM_001145861.2:c.2999C>T
  • NM_015029.3:c.2999C>T
  • NP_001139332.1:p.Ala1000Val
  • NP_001139333.1:p.Ala1000Val
  • NP_055844.2:p.Ala1000Val
  • NC_000008.10:g.99170423C>T
  • NM_015029.2:c.2999C>T
Protein change:
A1000V
Molecular consequence:
  • NM_001145860.2:c.2999C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145861.2:c.2999C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015029.3:c.2999C>T - 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
SCV003536579Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 13, 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, SCV003536579.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024