NM_018368.4(LMBRD1):c.981-10dup AND Methylmalonic aciduria and homocystinuria type cblF

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 1, 2024
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:: RCV000542590.16

Allele description

NM_018368.4(LMBRD1):c.981-10dup

Gene:

LMBRD1:LMBR1 domain containing 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6q13

Genomic location:

Preferred name:

NM_018368.4(LMBRD1):c.981-10dup

HGVS:

NC_000006.12:g.69701555dup
NG_016012.2:g.170069dup
NM_001363722.2:c.762-10dup
NM_001367271.1:c.762-10dup
NM_001367272.1:c.762-10dup
NM_018368.4:c.981-10dupMANE SELECT
LRG_1310t1:c.981-10dup
LRG_1310:g.170069dup
NC_000006.11:g.70411439_70411440insA
NC_000006.11:g.70411447dup
NG_016012.1:g.100610dup
NM_018368.3:c.981-3dup
NM_018368.3:c.981-3dupT

Links:

dbSNP: rs202207965

NCBI 1000 Genomes Browser:

rs202207965

Molecular consequence:

NM_001363722.2:c.762-10dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001367271.1:c.762-10dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001367272.1:c.762-10dup - intron variant - [Sequence Ontology: SO:0001627]
NM_018368.4:c.981-10dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Methylmalonic aciduria and homocystinuria type cblF
Synonyms:: COBALAMIN F DISEASE; COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF; METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010183; MedGen: C1848578; Orphanet: 79284; OMIM: 277380

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000640285	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004564663	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Aug 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000640285

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

germline

clinical testing

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

SCV004564663

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Aug 21, 2023)

germline

clinical testing

Citation Link

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000640285.6

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004564663.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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