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NM_032813.5(TMTC4):c.389A>G (p.Asn130Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 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:
RCV004086893.1

Allele description [Variation Report for NM_032813.5(TMTC4):c.389A>G (p.Asn130Ser)]

NM_032813.5(TMTC4):c.389A>G (p.Asn130Ser)

Gene:
TMTC4:transmembrane O-mannosyltransferase targeting cadherins 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q32.3
Genomic location:
Preferred name:
NM_032813.5(TMTC4):c.389A>G (p.Asn130Ser)
HGVS:
  • NC_000013.11:g.100663127T>C
  • NG_053145.1:g.16967A>G
  • NM_001079669.4:c.332A>G
  • NM_001286453.3:c.162+5452A>G
  • NM_001350571.2:c.389A>G
  • NM_001350572.2:c.332A>G
  • NM_001350574.2:c.332A>G
  • NM_001350576.2:c.389A>G
  • NM_001350577.2:c.332A>G
  • NM_032813.5:c.389A>GMANE SELECT
  • NP_001073137.1:p.Asn111Ser
  • NP_001337500.1:p.Asn130Ser
  • NP_001337501.1:p.Asn111Ser
  • NP_001337503.1:p.Asn111Ser
  • NP_001337505.1:p.Asn130Ser
  • NP_001337506.1:p.Asn111Ser
  • NP_116202.2:p.Asn130Ser
  • NC_000013.10:g.101315381T>C
  • NM_032813.2:c.389A>G
  • NR_146794.2:n.438A>G
Protein change:
N111S
Molecular consequence:
  • NM_001286453.3:c.162+5452A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001079669.4:c.332A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350571.2:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350572.2:c.332A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350574.2:c.332A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350576.2:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350577.2:c.332A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032813.5:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146794.2:n.438A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003549135Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 27, 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, SCV003549135.2

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

Description

The c.389A>G (p.N130S) alteration is located in exon 5 (coding exon 4) of the TMTC4 gene. This alteration results from a A to G substitution at nucleotide position 389, causing the asparagine (N) at amino acid position 130 to be replaced by a serine (S). 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