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NM_006985.4(NPIPA1):c.839C>T (p.Pro280Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 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:
RCV004305659.1

Allele description [Variation Report for NM_006985.4(NPIPA1):c.839C>T (p.Pro280Leu)]

NM_006985.4(NPIPA1):c.839C>T (p.Pro280Leu)

Gene:
NPIPA1:nuclear pore complex interacting protein family member A1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.11
Genomic location:
Preferred name:
NM_006985.4(NPIPA1):c.839C>T (p.Pro280Leu)
HGVS:
  • NC_000016.10:g.14951811C>T
  • NM_006985.4:c.839C>TMANE SELECT
  • NP_008916.2:p.Pro280Leu
  • NC_000016.9:g.15045668C>T
  • NM_006985.2:c.839C>T
  • NR_146231.1:n.7116C>T
Protein change:
P280L
Molecular consequence:
  • NM_006985.4:c.839C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146231.1:n.7116C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003961552Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 29, 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, SCV003961552.2

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

Description

The c.839C>T (p.P280L) alteration is located in exon 8 (coding exon 8) of the NPIPA1 gene. This alteration results from a C to T substitution at nucleotide position 839, causing the proline (P) at amino acid position 280 to be replaced by a leucine (L). 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: Nov 10, 2024