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NM_178493.6(NOTUM):c.1408A>T (p.Met470Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 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:
RCV004086862.1

Allele description [Variation Report for NM_178493.6(NOTUM):c.1408A>T (p.Met470Leu)]

NM_178493.6(NOTUM):c.1408A>T (p.Met470Leu)

Gene:
NOTUM:notum, palmitoleoyl-protein carboxylesterase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_178493.6(NOTUM):c.1408A>T (p.Met470Leu)
HGVS:
  • NC_000017.11:g.81953044T>A
  • NM_178493.6:c.1408A>TMANE SELECT
  • NP_848588.3:p.Met470Leu
  • NC_000017.10:g.79910920T>A
  • NM_178493.5:c.1408A>T
Protein change:
M470L
Molecular consequence:
  • NM_178493.6:c.1408A>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
SCV003549096Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 15, 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, SCV003549096.2

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

Description

The c.1408A>T (p.M470L) alteration is located in exon 11 (coding exon 11) of the NOTUM gene. This alteration results from a A to T substitution at nucleotide position 1408, causing the methionine (M) at amino acid position 470 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: Oct 26, 2024