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NM_001099287.2(NIPAL4):c.778C>T (p.Arg260Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 7, 2022
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:
RCV002997553.2

Allele description [Variation Report for NM_001099287.2(NIPAL4):c.778C>T (p.Arg260Trp)]

NM_001099287.2(NIPAL4):c.778C>T (p.Arg260Trp)

Gene:
NIPAL4:NIPA like domain containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.3
Genomic location:
Preferred name:
NM_001099287.2(NIPAL4):c.778C>T (p.Arg260Trp)
HGVS:
  • NC_000005.10:g.157472523C>T
  • NG_016626.1:g.17505C>T
  • NM_001099287.2:c.778C>TMANE SELECT
  • NM_001172292.2:c.721C>T
  • NP_001092757.2:p.Arg260Trp
  • NP_001165763.1:p.Arg303Trp
  • NP_001165763.2:p.Arg241Trp
  • NC_000005.9:g.156899531C>T
  • NM_001099287.1:c.964C>T
  • NM_001172292.1:c.907C>T
Protein change:
R241W
Molecular consequence:
  • NM_001099287.2:c.778C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172292.2:c.721C>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
SCV003707686Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 7, 2022) 		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, SCV003707686.2

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

Description

The c.964C>T (p.R322W) alteration is located in exon 6 (coding exon 6) of the NIPAL4 gene. This alteration results from a C to T substitution at nucleotide position 964, causing the arginine (R) at amino acid position 322 to be replaced by a tryptophan (W). 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