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NM_080655.3(MSANTD3):c.509C>T (p.Pro170Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 27, 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:
RCV004286336.1

Allele description [Variation Report for NM_080655.3(MSANTD3):c.509C>T (p.Pro170Leu)]

NM_080655.3(MSANTD3):c.509C>T (p.Pro170Leu)

Genes:
MSANTD3-TMEFF1:MSANTD3-TMEFF1 readthrough [Gene - HGNC]
MSANTD3:Myb/SANT DNA binding domain containing 3 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.1
Genomic location:
Preferred name:
NM_080655.3(MSANTD3):c.509C>T (p.Pro170Leu)
HGVS:
  • NC_000009.12:g.100450647C>T
  • NM_001198805.2:c.509C>T
  • NM_001198806.2:c.509C>T
  • NM_001198807.2:c.*98C>T
  • NM_001198812.1:c.418+8291C>T
  • NM_080655.3:c.509C>TMANE SELECT
  • NP_001185734.1:p.Pro170Leu
  • NP_001185735.1:p.Pro170Leu
  • NP_542386.1:p.Pro170Leu
  • NC_000009.11:g.103212929C>T
  • NM_080655.2:c.509C>T
...more
Protein change:
P170L
Molecular consequence:
  • NM_001198807.2:c.*98C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001198812.1:c.418+8291C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001198805.2:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001198806.2:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080655.3:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003940244Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Mar 27, 2023)
germlineclinical testing

Citation Link

Last Updated: Nov 10, 2024

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