NM_000371.3(TTR):c.379A>G (p.Ile127Val) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 23, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001090344.3

Allele description [Variation Report for NM_000371.3(TTR):c.379A>G (p.Ile127Val)]

NM_000371.3(TTR):c.379A>G (p.Ile127Val)

Gene:
TTR:transthyretin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_000371.3(TTR):c.379A>G (p.Ile127Val)
Other names:
I107V
HGVS:
  • NC_000018.10:g.31598610A>G
  • NG_009490.1:g.11844A>G
  • NM_000371.3:c.379A>G
  • NP_000362.1:p.Ile127Val
  • LRG_416t1:c.379A>G
  • LRG_416:g.11844A>G
  • LRG_416p1:p.Ile127Val
  • NC_000018.9:g.29178573A>G
  • P02766:p.Ile127Val
Protein change:
I127V; ILE107VAL
Links:
UniProtKB: P02766#VAR_007592; OMIM: 176300.0034; dbSNP: rs121918089
NCBI 1000 Genomes Browser:
rs121918089
Molecular consequence:
  • NM_000371.3:c.379A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
6

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001245843CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Mar 1, 2019)
germlineclinical testing

Citation Link,

SCV001446722Institute of Medical Genetics and Applied Genomics, University Hospital Tübingencriteria provided, single submitter
Pathogenic
(Oct 23, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001476395Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Dec 16, 2019)
unknownclinical testing

PubMed (11)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes6not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience.

Barreiros AP, Post F, Hoppe-Lotichius M, Linke RP, Vahl CF, Schäfers HJ, Galle PR, Otto G.

Liver Transpl. 2010 Mar;16(3):314-23. doi: 10.1002/lt.21996.

PubMed [citation]
PMID:
20209591
See all PubMed Citations (12)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001245843.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not providednot providednot provided

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001446722.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV001476395.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (11)

Description

Not found in the total gnomAD dataset, and the data is high quality. Found in multiple individuals with expected phenotype for this gene. Assessment of experimental evidence suggests this variant results in abnormal protein function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

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