NM_001080394.4(SPIDR):c.1315A>G (p.Thr439Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 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:: RCV004464986.1

Allele description [Variation Report for NM_001080394.4(SPIDR):c.1315A>G (p.Thr439Ala)]

NM_001080394.4(SPIDR):c.1315A>G (p.Thr439Ala)

Genes:

LOC130000329:ATAC-STARR-seq lymphoblastoid active region 27328 [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.1315A>G (p.Thr439Ala)

HGVS:

NC_000008.11:g.47598967A>G
NG_179775.1:g.108A>G
NM_001080394.4:c.1315A>GMANE SELECT
NM_001282916.1:c.1105A>G
NM_001282919.1:c.1135A>G
NM_001352931.1:c.1315A>G
NM_001352932.1:c.1195A>G
NM_001352933.1:c.1135A>G
NM_001352934.1:c.1315A>G
NM_001352935.1:c.1105A>G
NM_001352936.1:c.1105A>G
NM_001352937.1:c.1135A>G
NM_001352938.1:c.823A>G
NM_001352939.1:c.823A>G
NM_001352940.1:c.823A>G
NM_001352941.1:c.799A>G
NM_001352942.1:c.658A>G
NM_001352943.1:c.823A>G
NM_001352944.1:c.799A>G
NM_001352945.1:c.589A>G
NM_001352946.1:c.565A>G
NM_001352947.1:c.565A>G
NM_001352948.1:c.565A>G
NM_001352949.1:c.658A>G
NM_001352950.1:c.823A>G
NM_001352951.1:c.565A>G
NM_001352952.1:c.382A>G
NM_001352953.1:c.382A>G
NM_001352955.1:c.382A>G
NM_001352956.1:c.382A>G
NM_001352957.1:c.382A>G
NM_001352958.1:c.67A>G
NM_001352961.1:c.1315A>G
NP_001073863.1:p.Thr439Ala
NP_001269845.1:p.Thr369Ala
NP_001269848.1:p.Thr379Ala
NP_001339860.1:p.Thr439Ala
NP_001339861.1:p.Thr399Ala
NP_001339862.1:p.Thr379Ala
NP_001339863.1:p.Thr439Ala
NP_001339864.1:p.Thr369Ala
NP_001339865.1:p.Thr369Ala
NP_001339866.1:p.Thr379Ala
NP_001339867.1:p.Thr275Ala
NP_001339868.1:p.Thr275Ala
NP_001339869.1:p.Thr275Ala
NP_001339870.1:p.Thr267Ala
NP_001339871.1:p.Thr220Ala
NP_001339872.1:p.Thr275Ala
NP_001339873.1:p.Thr267Ala
NP_001339874.1:p.Thr197Ala
NP_001339875.1:p.Thr189Ala
NP_001339876.1:p.Thr189Ala
NP_001339877.1:p.Thr189Ala
NP_001339878.1:p.Thr220Ala
NP_001339879.1:p.Thr275Ala
NP_001339880.1:p.Thr189Ala
NP_001339881.1:p.Thr128Ala
NP_001339882.1:p.Thr128Ala
NP_001339884.1:p.Thr128Ala
NP_001339885.1:p.Thr128Ala
NP_001339886.1:p.Thr128Ala
NP_001339887.1:p.Thr23Ala
NP_001339890.1:p.Thr439Ala
NC_000008.10:g.48511529A>G
NM_001080394.2:c.1315A>G
NR_148202.1:n.1396A>G
NR_148203.1:n.1359A>G
NR_148204.1:n.1396A>G
NR_148205.1:n.1396A>G

Protein change:

T128A

Molecular consequence:

NM_001080394.4:c.1315A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282916.1:c.1105A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282919.1:c.1135A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352931.1:c.1315A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352932.1:c.1195A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352933.1:c.1135A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352934.1:c.1315A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352935.1:c.1105A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352936.1:c.1105A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352937.1:c.1135A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352938.1:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352939.1:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352940.1:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352941.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352942.1:c.658A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352943.1:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352944.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352945.1:c.589A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352946.1:c.565A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352947.1:c.565A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352948.1:c.565A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352949.1:c.658A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352950.1:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352951.1:c.565A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352952.1:c.382A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352953.1:c.382A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352955.1:c.382A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352956.1:c.382A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352957.1:c.382A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352958.1:c.67A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352961.1:c.1315A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148202.1:n.1396A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148203.1:n.1359A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148204.1:n.1396A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148205.1:n.1396A>G - 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
SCV004955456	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 20, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004955456

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 20, 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, SCV004955456.1

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

Description

The c.1315A>G (p.T439A) alteration is located in exon 10 (coding exon 10) of the SPIDR gene. This alteration results from a A to G substitution at nucleotide position 1315, causing the threonine (T) at amino acid position 439 to be replaced by an alanine (A). 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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