NM_002313.7(ABLIM1):c.1082G>C (p.Gly361Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 29, 2023
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:: RCV004340848.1

Allele description [Variation Report for NM_002313.7(ABLIM1):c.1082G>C (p.Gly361Ala)]

NM_002313.7(ABLIM1):c.1082G>C (p.Gly361Ala)

Gene:

ABLIM1:actin binding LIM protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.3

Genomic location:

Preferred name:

NM_002313.7(ABLIM1):c.1082G>C (p.Gly361Ala)

HGVS:

NC_000010.11:g.114473916C>G
NG_029872.2:g.352728G>C
NM_001003407.2:c.902G>C
NM_001322882.2:c.986G>C
NM_001322883.2:c.902G>C
NM_001322884.3:c.851G>C
NM_001322885.3:c.851G>C
NM_001322886.3:c.851G>C
NM_001322887.2:c.902G>C
NM_001322888.2:c.134G>C
NM_001322889.2:c.218G>C
NM_001322890.2:c.134G>C
NM_001322891.2:c.134G>C
NM_001322892.2:c.134G>C
NM_001322893.2:c.134G>C
NM_001322894.2:c.134G>C
NM_001322895.2:c.134G>C
NM_001322896.2:c.94-784G>C
NM_001322897.2:c.94-784G>C
NM_001322898.2:c.134G>C
NM_001322899.2:c.134G>C
NM_001322900.2:c.94-784G>C
NM_001352440.1:c.854G>C
NM_001352441.1:c.854G>C
NM_001352442.2:c.626G>C
NM_001352443.2:c.134G>C
NM_002313.7:c.1082G>CMANE SELECT
NM_006719.3:c.626G>C
NM_006720.4:c.218G>C
NP_001003407.1:p.Gly301Ala
NP_001309811.1:p.Gly329Ala
NP_001309812.1:p.Gly301Ala
NP_001309813.1:p.Gly284Ala
NP_001309814.1:p.Gly284Ala
NP_001309815.1:p.Gly284Ala
NP_001309816.1:p.Gly301Ala
NP_001309817.1:p.Gly45Ala
NP_001309818.1:p.Gly73Ala
NP_001309819.1:p.Gly45Ala
NP_001309820.1:p.Gly45Ala
NP_001309821.1:p.Gly45Ala
NP_001309822.1:p.Gly45Ala
NP_001309823.1:p.Gly45Ala
NP_001309824.1:p.Gly45Ala
NP_001309827.1:p.Gly45Ala
NP_001309828.1:p.Gly45Ala
NP_001339369.1:p.Gly285Ala
NP_001339370.1:p.Gly285Ala
NP_001339371.1:p.Gly209Ala
NP_001339372.1:p.Gly45Ala
NP_002304.3:p.Gly361Ala
NP_006710.2:p.Gly209Ala
NP_006711.3:p.Gly73Ala
NC_000010.10:g.116233675C>G
NM_002313.5:c.1082G>C

Protein change:

G209A

Molecular consequence:

NM_001322896.2:c.94-784G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322897.2:c.94-784G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322900.2:c.94-784G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001003407.2:c.902G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322882.2:c.986G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322883.2:c.902G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322884.3:c.851G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322885.3:c.851G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322886.3:c.851G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322887.2:c.902G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322888.2:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322889.2:c.218G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322890.2:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322891.2:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322892.2:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322893.2:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322894.2:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322895.2:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322898.2:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322899.2:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352440.1:c.854G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352441.1:c.854G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352442.2:c.626G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352443.2:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002313.7:c.1082G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006719.3:c.626G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006720.4:c.218G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Homo sapiens lysine demethylase 1B (KDM1B), transcript variant X8, mR...
PREDICTED: Homo sapiens lysine demethylase 1B (KDM1B), transcript variant X8, mRNA
gi|2462606760|ref|XM_054354607.1|

Nucleotide
Mus musculus PHD finger protein 20-like 1 (Phf20l1), transcript variant 8, mRNA
Mus musculus PHD finger protein 20-like 1 (Phf20l1), transcript variant 8, mRNA
gi|2465536087|ref|NM_001418892.1|

Nucleotide
Mus musculus 16 days neonate heart cDNA, RIKEN full-length enriched library, clo...
Mus musculus 16 days neonate heart cDNA, RIKEN full-length enriched library, clone:D830007E07 product:similar to INOSITOL HEXAKISPHOSPHATE KINASE 3 [Homo sapiens], full insert sequence
gi|26343038|dbj|AK052857.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004059930	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 29, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004059930

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 29, 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

Details of each submission

From Ambry Genetics, SCV004059930.2

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

Description

The c.1082G>C (p.G361A) alteration is located in exon 9 (coding exon 9) of the ABLIM1 gene. This alteration results from a G to C substitution at nucleotide position 1082, causing the glycine (G) at amino acid position 361 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Oct 26, 2024

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