NM_001080394.4(SPIDR):c.1085T>A (p.Ile362Asn) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 23, 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:: RCV004344782.1

Allele description [Variation Report for NM_001080394.4(SPIDR):c.1085T>A (p.Ile362Asn)]

NM_001080394.4(SPIDR):c.1085T>A (p.Ile362Asn)

Gene:

SPIDR:scaffold protein involved in DNA repair [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q11.21

Genomic location:

Preferred name:

NM_001080394.4(SPIDR):c.1085T>A (p.Ile362Asn)

HGVS:

NC_000008.11:g.47440530T>A
NM_001080394.4:c.1085T>AMANE SELECT
NM_001282916.1:c.875T>A
NM_001282919.1:c.905T>A
NM_001352931.1:c.1085T>A
NM_001352932.1:c.965T>A
NM_001352933.1:c.905T>A
NM_001352934.1:c.1085T>A
NM_001352935.1:c.875T>A
NM_001352936.1:c.875T>A
NM_001352937.1:c.905T>A
NM_001352938.1:c.593T>A
NM_001352939.1:c.593T>A
NM_001352940.1:c.593T>A
NM_001352941.1:c.569T>A
NM_001352942.1:c.428T>A
NM_001352943.1:c.593T>A
NM_001352944.1:c.569T>A
NM_001352945.1:c.359T>A
NM_001352946.1:c.335T>A
NM_001352947.1:c.335T>A
NM_001352948.1:c.335T>A
NM_001352949.1:c.428T>A
NM_001352950.1:c.593T>A
NM_001352951.1:c.335T>A
NM_001352952.1:c.152T>A
NM_001352953.1:c.152T>A
NM_001352955.1:c.152T>A
NM_001352956.1:c.152T>A
NM_001352957.1:c.152T>A
NM_001352958.1:c.-199T>A
NM_001352961.1:c.1085T>A
NP_001073863.1:p.Ile362Asn
NP_001269845.1:p.Ile292Asn
NP_001269848.1:p.Ile302Asn
NP_001339860.1:p.Ile362Asn
NP_001339861.1:p.Ile322Asn
NP_001339862.1:p.Ile302Asn
NP_001339863.1:p.Ile362Asn
NP_001339864.1:p.Ile292Asn
NP_001339865.1:p.Ile292Asn
NP_001339866.1:p.Ile302Asn
NP_001339867.1:p.Ile198Asn
NP_001339868.1:p.Ile198Asn
NP_001339869.1:p.Ile198Asn
NP_001339870.1:p.Ile190Asn
NP_001339871.1:p.Ile143Asn
NP_001339872.1:p.Ile198Asn
NP_001339873.1:p.Ile190Asn
NP_001339874.1:p.Ile120Asn
NP_001339875.1:p.Ile112Asn
NP_001339876.1:p.Ile112Asn
NP_001339877.1:p.Ile112Asn
NP_001339878.1:p.Ile143Asn
NP_001339879.1:p.Ile198Asn
NP_001339880.1:p.Ile112Asn
NP_001339881.1:p.Ile51Asn
NP_001339882.1:p.Ile51Asn
NP_001339884.1:p.Ile51Asn
NP_001339885.1:p.Ile51Asn
NP_001339886.1:p.Ile51Asn
NP_001339890.1:p.Ile362Asn
NC_000008.10:g.48353092T>A
NM_001080394.2:c.1085T>A
NR_104581.1:n.814T>A
NR_148202.1:n.1166T>A
NR_148203.1:n.1129T>A
NR_148204.1:n.1166T>A
NR_148205.1:n.1166T>A

Protein change:

I112N

Molecular consequence:

NM_001352958.1:c.-199T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001080394.4:c.1085T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282916.1:c.875T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282919.1:c.905T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352931.1:c.1085T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352932.1:c.965T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352933.1:c.905T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352934.1:c.1085T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352935.1:c.875T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352936.1:c.875T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352937.1:c.905T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352938.1:c.593T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352939.1:c.593T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352940.1:c.593T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352941.1:c.569T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352942.1:c.428T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352943.1:c.593T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352944.1:c.569T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352945.1:c.359T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352946.1:c.335T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352947.1:c.335T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352948.1:c.335T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352949.1:c.428T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352950.1:c.593T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352951.1:c.335T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352952.1:c.152T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352953.1:c.152T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352955.1:c.152T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352956.1:c.152T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352957.1:c.152T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352961.1:c.1085T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_104581.1:n.814T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148202.1:n.1166T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148203.1:n.1129T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148204.1:n.1166T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148205.1:n.1166T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004071181	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 23, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004071181

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 23, 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, SCV004071181.2

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

Description

The c.1085T>A (p.I362N) alteration is located in exon 8 (coding exon 8) of the SPIDR gene. This alteration results from a T to A substitution at nucleotide position 1085, causing the isoleucine (I) at amino acid position 362 to be replaced by an asparagine (N). 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 24, 2024

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