NM_144670.6(A2ML1):c.4061+1G>C AND Otitis media

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001261809.1

Allele description [Variation Report for NM_144670.6(A2ML1):c.4061+1G>C]

NM_144670.6(A2ML1):c.4061+1G>C

Gene:

A2ML1:alpha-2-macroglobulin like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_144670.6(A2ML1):c.4061+1G>C

HGVS:

NC_000012.12:g.8868358G>C
NG_042857.1:g.50887G>C
NG_042857.2:g.50739G>C
NM_001282424.3:c.2588+1G>C
NM_144670.6:c.4061+1G>CMANE SELECT
NC_000012.11:g.9020954G>C
NM_144670.5:c.4061+1G>C

Links:

dbSNP: rs202067416

NCBI 1000 Genomes Browser:

rs202067416

Molecular consequence:

NM_001282424.3:c.2588+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_144670.6:c.4061+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Otitis media
Identifiers:: MONDO: MONDO:0005441; MedGen: C0029882; Human Phenotype Ontology: HP:0000388

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001439138	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001439138

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

inherited

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

Larson ED, Magno JPM, Steritz MJ, Llanes EGDV, Cardwell J, Pedro M, Roberts TB, Einarsdottir E, Rosanes RAQ, Greenlee C, Santos RAP, Yousaf A, Streubel SO, Santos ATR, Ruiz AG, Lagrana-Villagracia SM, Ray D, Yarza TKL, Scholes MA, Anderson CB, Acharya A; University of Washington Center for Mendelian Genomics., et al.

Hum Mutat. 2019 Aug;40(8):1156-1171. doi: 10.1002/humu.23769. Epub 2019 May 21.

PubMed [citation]

PMID:: 31009165
PMCID:: PMC6711784

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439138.1

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

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

Last Updated: Feb 28, 2024

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