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NM_203293.3(TRIM7):c.110G>T (p.Arg37Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 22, 2023
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:
RCV004476172.1

Allele description [Variation Report for NM_203293.3(TRIM7):c.110G>T (p.Arg37Leu)]

NM_203293.3(TRIM7):c.110G>T (p.Arg37Leu)

Gene:
TRIM7:tripartite motif containing 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_203293.3(TRIM7):c.110G>T (p.Arg37Leu)
HGVS:
  • NC_000005.10:g.181205001C>A
  • NG_029535.1:g.5177G>T
  • NM_033342.4:c.110G>T
  • NM_203293.3:c.110G>TMANE SELECT
  • NP_203128.1:p.Arg37Leu
  • NP_976038.1:p.Arg37Leu
  • NC_000005.9:g.180632001C>A
  • NM_203293.1:c.110G>T
Protein change:
R37L
Molecular consequence:
  • NM_033342.4:c.110G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203293.3:c.110G>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
SCV004970334Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 22, 2023) 		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, SCV004970334.1

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

Description

The c.110G>T (p.R37L) alteration is located in exon 1 (coding exon 1) of the TRIM7 gene. This alteration results from a G to T substitution at nucleotide position 110, causing the arginine (R) at amino acid position 37 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