NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:: no classifications from unflagged records (1 submission)
Last evaluated:: May 23, 2024
Review status:: no classifications from unflagged records

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:: RCV003138147.3

Allele description [Variation Report for NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)]

NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)

HGVS:

NC_000009.12:g.127824316_127824317delinsGC
NG_009551.1:g.35452_35453delinsGC
NM_000118.4:c.1121_1122delAAinsGC
NM_001114753.3:c.1121_1122delinsGCMANE SELECT
NM_001278138.2:c.575_576delinsGC
NM_001406715.1:c.1121_1122delAAinsGC
NP_000109.1:p.Lys374Ser
NP_000109.1:p.Lys374Ser
NP_001108225.1:p.Lys374Ser
NP_001108225.1:p.Lys374Ser
NP_001265067.1:p.Lys192Ser
NP_001393644.1:p.Lys374Ser
LRG_589t1:c.1121_1122delinsGC
LRG_589t2:c.1121_1122delAAinsGC
LRG_589:g.35452_35453delinsGC
LRG_589p1:p.Lys374Ser
LRG_589p2:p.Lys374Ser
NC_000009.11:g.130586595_130586596delinsGC
NM_000118.3:c.1121_1122delinsGC
NM_001114753.1:c.1121_1122delAAinsGC
NM_001114753.2:c.1121_1122delAAinsGC

Protein change:

K192S

Links:

dbSNP: rs2131885751

NCBI 1000 Genomes Browser:

rs2131885751

Molecular consequence:

NM_000118.4:c.1121_1122delAAinsGC - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.1121_1122delinsGC - missense variant - [Sequence Ontology: SO:0001583]
NM_001278138.2:c.575_576delinsGC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406715.1:c.1121_1122delAAinsGC - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Telangiectasia, hereditary hemorrhagic, type 1 (HHT1)
Synonyms:: Osler Weber Rendu syndrome type 1
Identifiers:: MONDO: MONDO:0008535; MedGen: C4551861; Orphanet: 774; OMIM: 187300

Recent activity

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MATERIALS AND METHODS - NTP Genetically Modified Model Report on the Toxicology ...
MATERIALS AND METHODS - NTP Genetically Modified Model Report on the Toxicology Study of Diispropylcarbodiimide (CASRN 693-13-0) in Genetically Modified (FVB Tg.AC Hemizygous) Mice and Carcinogenicity Study of Diispropylcarbodiimide in Genetically Modified [B6.129-Trp53tm1Brd (N5) Haploinsufficient] Mice (Dermal Studies)
SUMMARY OF NONNEOPLASTIC LESIONS IN RATS AND B6C3F1 MICE IN THE 3-MONTH DERMAL S...
SUMMARY OF NONNEOPLASTIC LESIONS IN RATS AND B6C3F1 MICE IN THE 3-MONTH DERMAL STUDIES OF PENTAERYTHRITOL TRIACRYLATE - NTP Genetically Modified Model Report on the Toxicology Studies of Pentaerythritol Triacrylate (Technical Grade) (CASRN 3524-68-3) in F344/N Rats, B6C3F1 Mice, and Genetically Modified (FVB Tg.AC Hemizygous) Mice (Dermal Studies)
Homo sapiens PAPPA antisense RNA 1 (PAPPA-AS1), long non-coding RNA
Homo sapiens PAPPA antisense RNA 1 (PAPPA-AS1), long non-coding RNA
gi|512125254|ref|NR_103711.1|

Nucleotide

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No clinical assertions found. See "Flagged submissions" below.

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Summary from all submissions

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

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807617.1

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

Description

ACMG classification criteria: PS4 supporting, PM2 moderated, PM6 moderated

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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003807617	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	flagged submission Reason: Older and outlier claim with insufficient supporting evidence Notes: None (ACMG Guidelines, 2015)	Uncertain significance (Apr 22, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003807617

Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

flagged submission

Reason: Older and outlier claim with insufficient supporting evidence

Notes: None

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 22, 2022)

germline

clinical testing

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine