NM_002215.4(ITIH1):c.341A>G (p.Lys114Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 25, 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:: RCV004343789.1

Allele description [Variation Report for NM_002215.4(ITIH1):c.341A>G (p.Lys114Arg)]

NM_002215.4(ITIH1):c.341A>G (p.Lys114Arg)

Genes:

LOC126806682:BRD4-independent group 4 enhancer GRCh37_chr3:52812248-52813447 [Gene]
ITIH1:inter-alpha-trypsin inhibitor heavy chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.1

Genomic location:

Preferred name:

NM_002215.4(ITIH1):c.341A>G (p.Lys114Arg)

HGVS:

NC_000003.12:g.52778977A>G
NG_016005.1:g.6386A>G
NG_083002.1:g.846A>G
NM_001166434.3:c.-86A>G
NM_002215.4:c.341A>GMANE SELECT
NP_002206.2:p.Lys114Arg
NC_000003.11:g.52812993A>G
NM_002215.2:c.341A>G

Protein change:

K114R

Molecular consequence:

NM_001166434.3:c.-86A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_002215.4:c.341A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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unnamed protein product [Arabidopsis thaliana]
unnamed protein product [Arabidopsis thaliana]
gi|1789578937|emb|CAA0395973.1||gnl CACS|CAA0395973

Protein
KPNA4 protein [Homo sapiens]
KPNA4 protein [Homo sapiens]
gi|16876958|gb|AAH16754.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004074202	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 25, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004074202

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 25, 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, SCV004074202.2

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

Description

The c.341A>G (p.K114R) alteration is located in exon 4 (coding exon 4) of the ITIH1 gene. This alteration results from a A to G substitution at nucleotide position 341, causing the lysine (K) at amino acid position 114 to be replaced by an arginine (R). 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: Nov 10, 2024

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