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NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) AND WHRN-related disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 11, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003940063.2

Allele description [Variation Report for NM_015404.4(WHRN):c.1075G>A (p.Val359Ile)]

NM_015404.4(WHRN):c.1075G>A (p.Val359Ile)

Gene:
WHRN:whirlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q32
Genomic location:
Preferred name:
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile)
HGVS:
  • NC_000009.12:g.114426302C>T
  • NG_016700.1:g.84155G>A
  • NM_001083885.3:c.-75G>A
  • NM_001173425.2:c.1075G>A
  • NM_015404.4:c.1075G>AMANE SELECT
  • NP_001166896.1:p.Val359Ile
  • NP_056219.3:p.Val359Ile
  • LRG_1094t1:c.1075G>A
  • LRG_1094:g.84155G>A
  • LRG_1094p1:p.Val359Ile
  • NC_000009.11:g.117188582C>T
  • NM_015404.2:c.1075G>A
  • NM_015404.3:c.1075G>A
Protein change:
V359I
Links:
dbSNP: rs147500559
NCBI 1000 Genomes Browser:
rs147500559
Molecular consequence:
  • NM_001083885.3:c.-75G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001173425.2:c.1075G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015404.4:c.1075G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
WHRN-related disorder
Synonyms:
WHRN-related condition
Identifiers:

Recent activity

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  • PREDICTED: PC4 and SFRS1-interacting protein [Bos indicus]
    PREDICTED: PC4 and SFRS1-interacting protein [Bos indicus]
    gi|1131293266|ref|XP_019821093.1|
    Protein
  • Oligodendroglia
    Oligodendroglia
    A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as SAT...<br/>Year introduced: 1990(1975)
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004751006PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely benign
(Jul 11, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004751006.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024