NM_000371.4(TTR):c.337-14_337-11del AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Oct 30, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000155419.17

Allele description [Variation Report for NM_000371.4(TTR):c.337-14_337-11del]

NM_000371.4(TTR):c.337-14_337-11del

Gene:

TTR:transthyretin [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_000371.4(TTR):c.337-14_337-11del

HGVS:

NC_000018.10:g.31598550GTCT[1]
NC_000018.9:g.29178510_29178513del
NG_009490.1:g.11784GTCT[1]
NM_000371.4:c.337-14_337-11delMANE SELECT
LRG_416t1:c.337-14_337-11del
LRG_416:g.11784GTCT[1]
NC_000018.9:g.29178510_29178513del
NC_000018.9:g.29178513GTCT[1]
NC_000018.9:g.29178517_29178520del
NC_000018.9:g.29178517_29178520delGTCT
NM_000371.3:c.337-14_337-11del
NM_000371.3:c.337-14_337-11delGTCT

Links:

dbSNP: rs112263266

NCBI 1000 Genomes Browser:

rs112263266

Molecular consequence:

NM_000371.4:c.337-14_337-11del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

PREDICTED: Homo sapiens APOBEC1 complementation factor (A1CF), transcript varian...
PREDICTED: Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant X3, mRNA
gi|2462518797|ref|XM_054365676.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000205109	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Aug 10, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001476394	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Oct 30, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001924218	Clinical Genetics, Academic Medical Center - 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

SCV000205109

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Aug 10, 2018)

germline

clinical testing

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

SCV001476394

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Oct 30, 2019)

unknown

clinical testing

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

SCV001924218

Clinical Genetics, Academic Medical Center - 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	2	2	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000205109.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

Description

The c.337-14_337-11del variant in TTR is classified as benign because it has bee n identified in 0.3% (86/24008) of African chromsomes by gnomAD (http://gnomad.b roadinstitute.org) and is an intronic deletion of 1 of 2 GTCT tandem repeats tha t is not predicted to impact splicing. ACMG/AMP Criteria applied: BA1, BP4.

#	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		2	not provided	2	not provided

From Athena Diagnostics, SCV001476394.1

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

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

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001924218.1

#	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: Aug 11, 2024

ClinVar

Relating variation to medicine