NM_015102.5(NPHP4):c.2770C>G (p.Leu924Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 30, 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:
RCV004034913.1

Allele description [Variation Report for NM_015102.5(NPHP4):c.2770C>G (p.Leu924Val)]

NM_015102.5(NPHP4):c.2770C>G (p.Leu924Val)

Gene:
NPHP4:nephrocystin 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_015102.5(NPHP4):c.2770C>G (p.Leu924Val)
HGVS:
  • NC_000001.11:g.5877140G>C
  • NG_011724.2:g.120332C>G
  • NM_001291593.2:c.1231C>G
  • NM_001291594.2:c.1234C>G
  • NM_015102.5:c.2770C>GMANE SELECT
  • NP_001278522.1:p.Leu411Val
  • NP_001278523.1:p.Leu412Val
  • NP_055917.1:p.Leu924Val
  • NC_000001.10:g.5937200G>C
  • NM_015102.3:c.2770C>G
  • NM_015102.4:c.2770C>G
  • NR_111987.2:n.3274C>G
Protein change:
L411V
Links:
dbSNP: rs770984804
NCBI 1000 Genomes Browser:
rs770984804
Molecular consequence:
  • NM_001291593.2:c.1231C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291594.2:c.1234C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015102.5:c.2770C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_111987.2:n.3274C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004990997Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 30, 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, SCV004990997.1

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

Description

The c.2770C>G (p.L924V) alteration is located in exon 20 (coding exon 19) of the NPHP4 gene. This alteration results from a C to G substitution at nucleotide position 2770, causing the leucine (L) at amino acid position 924 to be replaced by a valine (V). 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: Jan 4, 2025