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NM_182663.4(RASSF5):c.134G>T (p.Cys45Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 10, 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:
RCV004239159.1

Allele description [Variation Report for NM_182663.4(RASSF5):c.134G>T (p.Cys45Phe)]

NM_182663.4(RASSF5):c.134G>T (p.Cys45Phe)

Genes:
LOC129932342:ATAC-STARR-seq lymphoblastoid silent region 1753 [Gene]
RASSF5:Ras association domain family member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_182663.4(RASSF5):c.134G>T (p.Cys45Phe)
HGVS:
  • NC_000001.11:g.206507736G>T
  • NG_029062.2:g.5191G>T
  • NM_182663.4:c.134G>TMANE SELECT
  • NM_182664.4:c.134G>T
  • NP_872604.1:p.Cys45Phe
  • NP_872605.1:p.Cys45Phe
  • NC_000001.10:g.206681069G>T
  • NM_182663.2:c.134G>T
Protein change:
C45F
Molecular consequence:
  • NM_182663.4:c.134G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182664.4:c.134G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003747422Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 10, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003747422.2

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

Description

The c.134G>T (p.C45F) alteration is located in exon 1 (coding exon 1) of the RASSF5 gene. This alteration results from a G to T substitution at nucleotide position 134, causing the cysteine (C) at amino acid position 45 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024