NM_002313.7(ABLIM1):c.2197A>G (p.Arg733Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 13, 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:: RCV004420924.1

Allele description [Variation Report for NM_002313.7(ABLIM1):c.2197A>G (p.Arg733Gly)]

NM_002313.7(ABLIM1):c.2197A>G (p.Arg733Gly)

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.2197A>G (p.Arg733Gly)

HGVS:

NC_000010.11:g.114437870T>C
NG_029872.2:g.388774A>G
NM_001003407.2:c.2017A>G
NM_001322882.2:c.2107A>G
NM_001322883.2:c.1912A>G
NM_001322884.3:c.1867A>G
NM_001322885.3:c.1861A>G
NM_001322886.3:c.1825A>G
NM_001322887.2:c.1771A>G
NM_001322888.2:c.1228A>G
NM_001322889.2:c.1192A>G
NM_001322890.2:c.1150A>G
NM_001322891.2:c.1150A>G
NM_001322892.2:c.1144A>G
NM_001322893.2:c.1144A>G
NM_001322894.2:c.1108A>G
NM_001322895.2:c.1108A>G
NM_001322896.2:c.1066A>G
NM_001322897.2:c.1030A>G
NM_001322898.2:c.1003A>G
NM_001322899.2:c.1003A>G
NM_001322900.2:c.925A>G
NM_001352440.1:c.1828A>G
NM_001352441.1:c.1723A>G
NM_001352442.2:c.1636A>G
NM_001352443.2:c.1255A>G
NM_002313.7:c.2197A>GMANE SELECT
NM_006719.3:c.1741A>G
NM_006720.4:c.1228A>G
NP_001003407.1:p.Arg673Gly
NP_001309811.1:p.Arg703Gly
NP_001309812.1:p.Arg638Gly
NP_001309813.1:p.Arg623Gly
NP_001309814.1:p.Arg621Gly
NP_001309815.1:p.Arg609Gly
NP_001309816.1:p.Arg591Gly
NP_001309817.1:p.Arg410Gly
NP_001309818.1:p.Arg398Gly
NP_001309819.1:p.Arg384Gly
NP_001309820.1:p.Arg384Gly
NP_001309821.1:p.Arg382Gly
NP_001309822.1:p.Arg382Gly
NP_001309823.1:p.Arg370Gly
NP_001309824.1:p.Arg370Gly
NP_001309825.1:p.Arg356Gly
NP_001309826.1:p.Arg344Gly
NP_001309827.1:p.Arg335Gly
NP_001309828.1:p.Arg335Gly
NP_001309829.1:p.Arg309Gly
NP_001339369.1:p.Arg610Gly
NP_001339370.1:p.Arg575Gly
NP_001339371.1:p.Arg546Gly
NP_001339372.1:p.Arg419Gly
NP_002304.3:p.Arg733Gly
NP_006710.2:p.Arg581Gly
NP_006711.3:p.Arg410Gly
NC_000010.10:g.116197629T>C
NM_002313.5:c.2197A>G

Protein change:

R309G

Molecular consequence:

NM_001003407.2:c.2017A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322882.2:c.2107A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322883.2:c.1912A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322884.3:c.1867A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322885.3:c.1861A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322886.3:c.1825A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322887.2:c.1771A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322888.2:c.1228A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322889.2:c.1192A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322890.2:c.1150A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322891.2:c.1150A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322892.2:c.1144A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322893.2:c.1144A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322894.2:c.1108A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322895.2:c.1108A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322896.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322897.2:c.1030A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322898.2:c.1003A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322899.2:c.1003A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322900.2:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352440.1:c.1828A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352441.1:c.1723A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352442.2:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352443.2:c.1255A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002313.7:c.2197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006719.3:c.1741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006720.4:c.1228A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Sus scrofa haptoglobin (HP), transcript variant X1, mRNA
PREDICTED: Sus scrofa haptoglobin (HP), transcript variant X1, mRNA
gi|1191883781|ref|XM_005664359.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004911437	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004911437

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 13, 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, SCV004911437.1

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

Description

The c.2197A>G (p.R733G) alteration is located in exon 22 (coding exon 22) of the ABLIM1 gene. This alteration results from a A to G substitution at nucleotide position 2197, causing the arginine (R) at amino acid position 733 to be replaced by a glycine (G). 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: May 7, 2024

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