NM_000371.4(TTR):c.122G>A (p.Arg41Gln) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 2016
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:: RCV000236425.2

Allele description [Variation Report for NM_000371.4(TTR):c.122G>A (p.Arg41Gln)]

NM_000371.4(TTR):c.122G>A (p.Arg41Gln)

Gene:

TTR:transthyretin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_000371.4(TTR):c.122G>A (p.Arg41Gln)

HGVS:

NC_000018.10:g.31592948G>A
NG_009490.1:g.6182G>A
NM_000371.4:c.122G>AMANE SELECT
NP_000362.1:p.Arg41Gln
NP_000362.1:p.Arg41Gln
LRG_416t1:c.122G>A
LRG_416:g.6182G>A
LRG_416p1:p.Arg41Gln
NC_000018.9:g.29172911G>A
NM_000371.3:c.122G>A

Protein change:

R41Q

Links:

dbSNP: rs879254269

NCBI 1000 Genomes Browser:

rs879254269

Molecular consequence:

NM_000371.4:c.122G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000294027	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Mar 1, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000294027

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Mar 1, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000294027.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The R41Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R41Q variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R41Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved across species and where Q41 is the wild type in several species. Finally, in silico analysis predicts this variant likely does not alter the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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