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NM_001276700.2(NLRP6):c.1048T>C (p.Ser350Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 4, 2024
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:
RCV004647370.1

Allele description [Variation Report for NM_001276700.2(NLRP6):c.1048T>C (p.Ser350Pro)]

NM_001276700.2(NLRP6):c.1048T>C (p.Ser350Pro)

Gene:
NLRP6:NLR family pyrin domain containing 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_001276700.2(NLRP6):c.1048T>C (p.Ser350Pro)
HGVS:
  • NC_000011.10:g.280782T>C
  • NG_050573.1:g.7418T>C
  • NM_001276700.2:c.1048T>CMANE SELECT
  • NM_138329.2:c.1048T>C
  • NP_001263629.1:p.Ser350Pro
  • NP_612202.2:p.Ser350Pro
  • NC_000011.9:g.280782T>C
  • NM_138329.1:c.1048T>C
Protein change:
S350P
Molecular consequence:
  • NM_001276700.2:c.1048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138329.2:c.1048T>C - 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
SCV005146785Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 4, 2024) 		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, SCV005146785.1

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

Description

The c.1048T>C (p.S350P) alteration is located in exon 4 (coding exon 4) of the NLRP6 gene. This alteration results from a T to C substitution at nucleotide position 1048, causing the serine (S) at amino acid position 350 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: Aug 11, 2024