NM_000371.4(TTR):c.371G>A (p.Arg124His) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 19, 2013
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:: RCV000152543.5

Allele description [Variation Report for NM_000371.4(TTR):c.371G>A (p.Arg124His)]

NM_000371.4(TTR):c.371G>A (p.Arg124His)

Gene:

TTR:transthyretin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_000371.4(TTR):c.371G>A (p.Arg124His)

Other names:

R104H

HGVS:

NC_000018.10:g.31598602G>A
NG_009490.1:g.11836G>A
NM_000371.4:c.371G>AMANE SELECT
NP_000362.1:p.Arg124His
NP_000362.1:p.Arg124His
LRG_416t1:c.371G>A
LRG_416:g.11836G>A
LRG_416p1:p.Arg124His
NC_000018.9:g.29178565G>A
NM_000371.3:c.371G>A
P02766:p.Arg124His

Protein change:

R124H; ARG104HIS

Links:

UniProtKB: P02766#VAR_038983; OMIM: 176300.0042; dbSNP: rs121918095

NCBI 1000 Genomes Browser:

rs121918095

Molecular consequence:

NM_000371.4:c.371G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000201748	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Nov 19, 2013)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 10529370, 14640030, 10772944, 16911959, 24033266
SCV001929625	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000201748

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Nov 19, 2013)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV001929625

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels.

Terazaki H, Ando Y, Misumi S, Nakamura M, Ando E, Matsunaga N, Shoji S, Okuyama M, Ideta H, Nakagawa K, Ishizaki T, Ando M, Saraiva MJ.

Biochem Biophys Res Commun. 1999 Oct 22;264(2):365-70.

PubMed [citation]

PMID:: 10529370

Tabulation of human transthyretin (TTR) variants, 2003.

Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE.

Amyloid. 2003 Sep;10(3):160-84. No abstract available.

PubMed [citation]

PMID:: 14640030

See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000201748.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (5)

Description

Arg124His in exon 4 of TTR: This variant is not expected to have clinical signi ficance because it is found in several other species including mammals and has b een identified in 2% (8/394) Chinese chromosomes by the 1000 Genomes Project (ht tp://www.1000genomes.org; dbSNP rs121918095). Arg124His in exon 4 of TTR (rs121 918095; allele frequency = 2%, 8/394)

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001929625.1

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

#	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: Apr 15, 2024

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