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NM_030941.3(REXO5):c.461C>T (p.Pro154Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 12, 2021
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:
RCV004446232.1

Allele description [Variation Report for NM_030941.3(REXO5):c.461C>T (p.Pro154Leu)]

NM_030941.3(REXO5):c.461C>T (p.Pro154Leu)

Gene:
REXO5:RNA exonuclease 5 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.3
Genomic location:
Preferred name:
NM_030941.3(REXO5):c.461C>T (p.Pro154Leu)
HGVS:
  • NC_000016.10:g.20816198C>T
  • NM_001144924.2:c.461C>T
  • NM_001199053.2:c.461C>T
  • NM_030941.3:c.461C>TMANE SELECT
  • NP_001138396.1:p.Pro154Leu
  • NP_001185982.1:p.Pro154Leu
  • NP_112203.2:p.Pro154Leu
  • NC_000016.9:g.20827520C>T
  • NM_001199053.1:c.461C>T
Protein change:
P154L
Molecular consequence:
  • NM_001144924.2:c.461C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199053.2:c.461C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030941.3:c.461C>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
SCV004937485Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 12, 2021) 		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, SCV004937485.1

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

Description

The c.461C>T (p.P154L) alteration is located in exon 5 (coding exon 4) of the LOC81691 gene. This alteration results from a C to T substitution at nucleotide position 461, causing the proline (P) at amino acid position 154 to be replaced by a leucine (L). 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: May 7, 2024