NM_001080394.4(SPIDR):c.2029G>A (p.Asp677Asn) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 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:: RCV004131390.1

Allele description [Variation Report for NM_001080394.4(SPIDR):c.2029G>A (p.Asp677Asn)]

NM_001080394.4(SPIDR):c.2029G>A (p.Asp677Asn)

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.2029G>A (p.Asp677Asn)

HGVS:

NC_000008.11:g.47712713G>A
NM_001080394.4:c.2029G>AMANE SELECT
NM_001282916.1:c.1819G>A
NM_001282919.1:c.1849G>A
NM_001352931.1:c.2029G>A
NM_001352932.1:c.1909G>A
NM_001352933.1:c.1849G>A
NM_001352934.1:c.2029G>A
NM_001352935.1:c.1819G>A
NM_001352936.1:c.1819G>A
NM_001352937.1:c.1849G>A
NM_001352938.1:c.1537G>A
NM_001352939.1:c.1537G>A
NM_001352940.1:c.1537G>A
NM_001352941.1:c.1513G>A
NM_001352942.1:c.1372G>A
NM_001352943.1:c.1537G>A
NM_001352944.1:c.1513G>A
NM_001352945.1:c.1303G>A
NM_001352946.1:c.1279G>A
NM_001352947.1:c.1279G>A
NM_001352948.1:c.1279G>A
NM_001352949.1:c.1372G>A
NM_001352950.1:c.1537G>A
NM_001352951.1:c.1279G>A
NM_001352952.1:c.1096G>A
NM_001352953.1:c.1096G>A
NM_001352955.1:c.1096G>A
NM_001352956.1:c.1096G>A
NM_001352957.1:c.1096G>A
NM_001352958.1:c.781G>A
NM_001352959.1:c.544G>A
NM_001352960.1:c.454G>A
NM_001352961.1:c.2029G>A
NP_001073863.1:p.Asp677Asn
NP_001269845.1:p.Asp607Asn
NP_001269848.1:p.Asp617Asn
NP_001339860.1:p.Asp677Asn
NP_001339861.1:p.Asp637Asn
NP_001339862.1:p.Asp617Asn
NP_001339863.1:p.Asp677Asn
NP_001339864.1:p.Asp607Asn
NP_001339865.1:p.Asp607Asn
NP_001339866.1:p.Asp617Asn
NP_001339867.1:p.Asp513Asn
NP_001339868.1:p.Asp513Asn
NP_001339869.1:p.Asp513Asn
NP_001339870.1:p.Asp505Asn
NP_001339871.1:p.Asp458Asn
NP_001339872.1:p.Asp513Asn
NP_001339873.1:p.Asp505Asn
NP_001339874.1:p.Asp435Asn
NP_001339875.1:p.Asp427Asn
NP_001339876.1:p.Asp427Asn
NP_001339877.1:p.Asp427Asn
NP_001339878.1:p.Asp458Asn
NP_001339879.1:p.Asp513Asn
NP_001339880.1:p.Asp427Asn
NP_001339881.1:p.Asp366Asn
NP_001339882.1:p.Asp366Asn
NP_001339884.1:p.Asp366Asn
NP_001339885.1:p.Asp366Asn
NP_001339886.1:p.Asp366Asn
NP_001339887.1:p.Asp261Asn
NP_001339888.1:p.Asp182Asn
NP_001339889.1:p.Asp152Asn
NP_001339890.1:p.Asp677Asn
NC_000008.10:g.48625275G>A
NM_001080394.2:c.2029G>A
NR_104581.1:n.1507G>A
NR_148202.1:n.2232G>A
NR_148203.1:n.2073G>A
NR_148204.1:n.2105G>A
NR_148205.1:n.2110G>A

Protein change:

D152N

Molecular consequence:

NM_001080394.4:c.2029G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282916.1:c.1819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282919.1:c.1849G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352931.1:c.2029G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352932.1:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352933.1:c.1849G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352934.1:c.2029G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352935.1:c.1819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352936.1:c.1819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352937.1:c.1849G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352938.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352939.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352940.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352941.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352942.1:c.1372G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352943.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352944.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352945.1:c.1303G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352946.1:c.1279G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352947.1:c.1279G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352948.1:c.1279G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352949.1:c.1372G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352950.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352951.1:c.1279G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352952.1:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352953.1:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352955.1:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352956.1:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352957.1:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352958.1:c.781G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352959.1:c.544G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352960.1:c.454G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352961.1:c.2029G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_104581.1:n.1507G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148202.1:n.2232G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148203.1:n.2073G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148204.1:n.2105G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148205.1:n.2110G>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
SCV003607810	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003607810

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 28, 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, SCV003607810.2

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

Description

The c.2029G>A (p.D677N) alteration is located in exon 15 (coding exon 15) of the SPIDR gene. This alteration results from a G to A substitution at nucleotide position 2029, causing the aspartic acid (D) at amino acid position 677 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

ClinVar

Relating variation to medicine