NM_003579.4(RAD54L):c.2047C>T (p.Arg683Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 23, 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:: RCV004260162.1

Allele description [Variation Report for NM_003579.4(RAD54L):c.2047C>T (p.Arg683Cys)]

NM_003579.4(RAD54L):c.2047C>T (p.Arg683Cys)

Genes:

RAD54L:RAD54 like [Gene - OMIM - HGNC]
LRRC41:leucine rich repeat containing 41 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_003579.4(RAD54L):c.2047C>T (p.Arg683Cys)

HGVS:

NC_000001.11:g.46278085C>T
NG_012144.1:g.35391C>T
NM_001142548.2:c.2047C>T
NM_001370766.1:c.1507C>T
NM_003579.4:c.2047C>TMANE SELECT
NM_006369.5:c.*780G>AMANE SELECT
NP_001136020.1:p.Arg683Cys
NP_001357695.1:p.Arg503Cys
NP_003570.2:p.Arg683Cys
LRG_1414t1:c.2047C>T
LRG_1414:g.35391C>T
LRG_1414p1:p.Arg683Cys
NC_000001.10:g.46743757C>T
NM_003579.3:c.2047C>T

Protein change:

R503C

Molecular consequence:

NM_006369.5:c.*780G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001142548.2:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370766.1:c.1507C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003579.4:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003880912	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 23, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003880912

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 23, 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, SCV003880912.2

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

Description

The p.R683C variant (also known as c.2047C>T), located in coding exon 18 of the RAD54L gene, results from a C to T substitution at nucleotide position 2047. The arginine at codon 683 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, 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 3, 2024

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