NM_015124.5(GRAMD4):c.517C>T (p.Arg173Trp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 18, 2023
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:: RCV004393607.1

Allele description [Variation Report for NM_015124.5(GRAMD4):c.517C>T (p.Arg173Trp)]

NM_015124.5(GRAMD4):c.517C>T (p.Arg173Trp)

Gene:

GRAMD4:GRAM domain containing 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.31

Genomic location:

Preferred name:

NM_015124.5(GRAMD4):c.517C>T (p.Arg173Trp)

HGVS:

NC_000022.11:g.46663090C>T
NM_001366660.1:c.595C>T
NM_015124.5:c.517C>TMANE SELECT
NP_001353589.1:p.Arg199Trp
NP_055939.1:p.Arg173Trp
NC_000022.10:g.47058987C>T
NM_015124.3:c.517C>T

Protein change:

R173W

Molecular consequence:

NM_001366660.1:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_015124.5:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Leptosomus discolor isolate BGI_N330, whole genome shotgun sequencing project
Leptosomus discolor isolate BGI_N330, whole genome shotgun sequencing project
gi|628968214|gb|JJRK00000000.1|JJRK 000

Nucleotide
Supernormal dark-adapted bright flash electroretinogram b-wave
Supernormal dark-adapted bright flash electroretinogram b-wave

MedGen
Undetectable dark-adapted electroretinogram
Undetectable dark-adapted electroretinogram

MedGen
Zfp346 zinc finger protein 346 [Mus musculus]
Zfp346 zinc finger protein 346 [Mus musculus]
Gene ID:26919

Gene
RefSeq RNA Links for Gene (Select 60558) (13)
Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004876927	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004876927

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 18, 2023)

germline

clinical testing

Citation Link

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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, SCV004876927.1

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

Description

The c.517C>T (p.R173W) alteration is located in exon 5 (coding exon 5) of the GRAMD4 gene. This alteration results from a C to T substitution at nucleotide position 517, causing the arginine (R) at amino acid position 173 to be replaced by a tryptophan (W). 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: May 7, 2024

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