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NM_006947.4(SRP72):c.191C>T (p.Ala64Val) AND not specified

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jan 6, 2023
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV000504339.7

Allele description [Variation Report for NM_006947.4(SRP72):c.191C>T (p.Ala64Val)]

NM_006947.4(SRP72):c.191C>T (p.Ala64Val)

Gene:
SRP72:signal recognition particle 72 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_006947.4(SRP72):c.191C>T (p.Ala64Val)
HGVS:
  • NC_000004.12:g.56469734C>T
  • NG_032796.1:g.7139C>T
  • NM_001267722.2:c.191C>T
  • NM_006947.4:c.191C>TMANE SELECT
  • NP_001254651.1:p.Ala64Val
  • NP_008878.3:p.Ala64Val
  • LRG_1151t1:c.191C>T
  • LRG_1151:g.7139C>T
  • LRG_1151p1:p.Ala64Val
  • NC_000004.11:g.57335900C>T
  • NM_006947.3:c.191C>T
  • NR_151856.2:n.210C>T
...more
Protein change:
A64V
Links:
dbSNP: rs141475605
NCBI 1000 Genomes Browser:
rs141475605
Molecular consequence:
  • NM_001267722.2:c.191C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006947.4:c.191C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_151856.2:n.210C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000597260Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Apr 10, 2017)
germlineclinical testing

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

SCV003866009Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Jan 6, 2023)
germlineclinical testing

Citation Link

Last Updated: Nov 10, 2024

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