NM_000371.4(TTR):c.165G>T (p.Lys55Asn) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 3, 2018
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:: RCV000714132.2

Allele description [Variation Report for NM_000371.4(TTR):c.165G>T (p.Lys55Asn)]

NM_000371.4(TTR):c.165G>T (p.Lys55Asn)

Gene:

TTR:transthyretin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_000371.4(TTR):c.165G>T (p.Lys55Asn)

HGVS:

NC_000018.10:g.31592991G>T
NG_009490.1:g.6225G>T
NM_000371.4:c.165G>TMANE SELECT
NP_000362.1:p.Lys55Asn
NP_000362.1:p.Lys55Asn
LRG_416t1:c.165G>T
LRG_416:g.6225G>T
LRG_416p1:p.Lys55Asn
NC_000018.9:g.29172954G>T
NM_000371.3:c.165G>T

Protein change:

K55N

Links:

dbSNP: rs1567945684

NCBI 1000 Genomes Browser:

rs1567945684

Molecular consequence:

NM_000371.4:c.165G>T - 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
SCV000844809	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely pathogenic (Aug 3, 2018)	germline	clinical testing	PubMed (12) [See all records that cite these PMIDs] 7655883, 25644864, 16076613, 9748014, 26342004, 14627687, 17028027, 18074076, 16399646, 19467548, 16448460, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000844809

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Likely pathogenic
(Aug 3, 2018)

germline

clinical testing

PubMed (12)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.

Reilly MM, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, Harding AE.

Brain. 1995 Aug;118 ( Pt 4):849-56.

PubMed [citation]

PMID:: 7655883

Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.

Jang MA, Lee GY, Kim K, Kim SJ, Kim JS, Lee SY, Kim HJ, Jeon ES.

Ann Hum Genet. 2015 Mar;79(2):99-107. doi: 10.1111/ahg.12101. Epub 2015 Jan 23.

PubMed [citation]

PMID:: 25644864

See all PubMed Citations (12)

Details of each submission

From Athena Diagnostics, SCV000844809.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (12)

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

Last Updated: Sep 29, 2024

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