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NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) AND Senior-Loken syndrome 4

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 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:
RCV002245030.2

Allele description [Variation Report for NM_015102.5(NPHP4):c.2306A>T (p.His769Leu)]

NM_015102.5(NPHP4):c.2306A>T (p.His769Leu)

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.2306A>T (p.His769Leu)
HGVS:
  • NC_000001.11:g.5887465T>A
  • NG_011724.2:g.110007A>T
  • NM_001291593.2:c.767A>T
  • NM_001291594.2:c.770A>T
  • NM_015102.5:c.2306A>TMANE SELECT
  • NP_001278522.1:p.His256Leu
  • NP_001278523.1:p.His257Leu
  • NP_055917.1:p.His769Leu
  • NC_000001.10:g.5947525T>A
  • NM_015102.4:c.2306A>T
  • NR_111987.2:n.2523A>T
Protein change:
H256L
Links:
dbSNP: rs200821373
NCBI 1000 Genomes Browser:
rs200821373
Molecular consequence:
  • NM_001291593.2:c.767A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291594.2:c.770A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015102.5:c.2306A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_111987.2:n.2523A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Senior-Loken syndrome 4 (SLSN4)
Identifiers:
MONDO: MONDO:0011756; MedGen: C1846979; Orphanet: 3156; OMIM: 606996

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002515361Daryl Scott Lab, Baylor College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 1, 2022) 		biparentalclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.

Belanger Deloge R, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA.

Eur J Hum Genet. 2023 Mar;31(3):296-303. doi: 10.1038/s41431-022-01255-y. Epub 2022 Dec 6.

PubMed [citation]
PMID:
36474027
PMCID:
PMC9995493

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV002515361.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024