NM_005452.6(WDR46):c.1199T>C (p.Leu400Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 24, 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:: RCV004167813.1

Allele description [Variation Report for NM_005452.6(WDR46):c.1199T>C (p.Leu400Pro)]

NM_005452.6(WDR46):c.1199T>C (p.Leu400Pro)

Gene:

WDR46:WD repeat domain 46 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

Preferred name:

NM_005452.6(WDR46):c.1199T>C (p.Leu400Pro)

HGVS:

NC_000006.12:g.33280904A>G
NM_001164267.2:c.1037T>C
NM_005452.6:c.1199T>CMANE SELECT
NP_001157739.1:p.Leu346Pro
NP_005443.3:p.Leu400Pro
NC_000006.11:g.33248681A>G
NM_005452.5:c.1199T>C

Protein change:

L346P

Molecular consequence:

NM_001164267.2:c.1037T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005452.6:c.1199T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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AGENCOURT_14538543 NIA Human H1 Embryonic Stem Cell cDNA Library (Long) Homo sap...
AGENCOURT_14538543 NIA Human H1 Embryonic Stem Cell cDNA Library (Long) Homo sapiens cDNA clone IMAGE:30423980 5', mRNA sequence
gi|31894973|gnl|dbEST|18764519|gb|C 61.1|

Nucleotide
JP 2021088563-A/170: DYSTROPHIN GENE EXON DELETION USING ENGINEERED NUCLEASES
JP 2021088563-A/170: DYSTROPHIN GENE EXON DELETION USING ENGINEERED NUCLEASES
gi|2751740936|dbj|PA679461.1||pat|J 1088563|170

Nucleotide
Chain C, Light Chain of mAb 8C11
Chain C, Light Chain of mAb 8C11
gi|2794428280|pdb|9IY2|C

Protein
Chain J, Igh protein
Chain J, Igh protein
gi|2206270598|pdb|7TY0|J

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003661939	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 24, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003661939

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 24, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003661939.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.1199T>C (p.L400P) alteration is located in exon 11 (coding exon 11) of the WDR46 gene. This alteration results from a T to C substitution at nucleotide position 1199, causing the leucine (L) at amino acid position 400 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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