NM_005732.4(RAD50):c.1144G>T (p.Gly382Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 8, 2020
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:: RCV001374220.7

Allele description [Variation Report for NM_005732.4(RAD50):c.1144G>T (p.Gly382Cys)]

NM_005732.4(RAD50):c.1144G>T (p.Gly382Cys)

Gene:

RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_005732.4(RAD50):c.1144G>T (p.Gly382Cys)

HGVS:

NC_000005.10:g.132588779G>T
NG_021151.2:g.36803G>T
NM_005732.4:c.1144G>TMANE SELECT
NP_005723.2:p.Gly382Cys
LRG_312t1:c.1144G>T
LRG_312:g.36803G>T
LRG_312p1:p.Gly382Cys
NC_000005.9:g.131924471G>T

Protein change:

G382C

Links:

dbSNP: rs2149841115

NCBI 1000 Genomes Browser:

rs2149841115

Molecular consequence:

NM_005732.4:c.1144G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

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interleukin 1beta, partial [Homo sapiens]
interleukin 1beta, partial [Homo sapiens]
gi|1707062196|dbj|BBJ35450.1|

Protein
AL852382 XGC-egg Xenopus tropicalis cDNA clone TEgg011b18 5', mRNA sequence
AL852382 XGC-egg Xenopus tropicalis cDNA clone TEgg011b18 5', mRNA sequence
gi|38563240|gnl|dbEST|20576581|emb| 382.2|

Nucleotide
Homo sapiens family with sequence similarity 171, member B, mRNA (cDNA clone IMA...
Homo sapiens family with sequence similarity 171, member B, mRNA (cDNA clone IMAGE:5260563), partial cds
gi|34785017|gb|BC036478.2|

Nucleotide
Homo sapiens family with sequence similarity 171, member B, mRNA (cDNA clone MGC...
Homo sapiens family with sequence similarity 171, member B, mRNA (cDNA clone MGC:71825 IMAGE:30347998), complete cds
gi|38173847|gb|BC060872.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001571011	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 8, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001571011

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 8, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001571011.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RAD50-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with cysteine at codon 382 of the RAD50 protein (p.Gly382Cys). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and cysteine.

#	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: Sep 29, 2024

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