NM_000201.3(ICAM1):c.292G>C (p.Asp98His) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 20, 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:: RCV004397719.1

Allele description [Variation Report for NM_000201.3(ICAM1):c.292G>C (p.Asp98His)]

NM_000201.3(ICAM1):c.292G>C (p.Asp98His)

Genes:

ICAM1:intercellular adhesion molecule 1 [Gene - OMIM - HGNC]
LIMASI:lncRNA inflammatory and mucous response associated, antisense to ICAM1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000201.3(ICAM1):c.292G>C (p.Asp98His)

HGVS:

NC_000019.10:g.10274989G>C
NG_012083.1:g.9149G>C
NM_000201.3:c.292G>CMANE SELECT
NP_000192.2:p.Asp98His
NC_000019.9:g.10385665G>C
NM_000201.2:c.292G>C

Protein change:

D98H

Molecular consequence:

NM_000201.3:c.292G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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LOC100910179 peptidoglycan recognition protein 4-like [Rattus norvegicus]
LOC100910179 peptidoglycan recognition protein 4-like [Rattus norvegicus]
Gene ID:100910179

Gene
Reticulocyte Count
Reticulocyte Count
The number of RETICULOCYTES per unit volume of BLOOD. The values are expressed as a percentage of the ERYTHROCYTE COUNT or in the form of an index (corrected reticulocyte inde...<br/>Year introduced: 1994

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004884149	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 20, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004884149

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 20, 2023)

germline

clinical testing

Citation Link

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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, SCV004884149.1

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

Description

The c.292G>C (p.D98H) alteration is located in exon 2 (coding exon 2) of the ICAM1 gene. This alteration results from a G to C substitution at nucleotide position 292, causing the aspartic acid (D) at amino acid position 98 to be replaced by a histidine (H). 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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